2-54853241-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853241
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853241
    reference: chr 2
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1514A>G
  hgvsp: ENSP00000374630.3:p.Asn505Ser
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1514A>G
  hgvsp: ENSP00000349259.4:p.Asn505Ser
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1475A>G
  hgvsp: ENSP00000334156.5:p.Asn492Ser
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
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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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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 923
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn505Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-54853241-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853241
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853241
    reference: chr 2
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1475A>T
  hgvsp: ENSP00000334156.5:p.Asn492Ile
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1514A>T
  hgvsp: ENSP00000349259.4:p.Asn505Ile
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1514A>T
  hgvsp: ENSP00000374630.3:p.Asn505Ile
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 99
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  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
  all individuals: 3
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn505Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-54853245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853245
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1518C>T
  hgvsp: ENST00000356805.4:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1518C>T
  hgvsp: ENST00000389980.3:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1479C>T
  hgvsp: ENST00000333896.5:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val506Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

2-54853246-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853246
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853246
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1519A>T
  hgvsp: ENSP00000374630.3:p.Ile507Phe
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1480A>T
  hgvsp: ENSP00000334156.5:p.Ile494Phe
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1519A>T
  hgvsp: ENSP00000349259.4:p.Ile507Phe
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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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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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile507Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-54853248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853248
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853248
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1482C>T
  hgvsp: ENST00000333896.5:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1521C>T
  hgvsp: ENST00000356805.4:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1521C>T
  hgvsp: ENST00000389980.3:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile507Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-54853260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853260
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853260
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1533A>G
  hgvsp: ENST00000389980.3:c.1533A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1494A>G
  hgvsp: ENST00000333896.5:c.1494A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1533A>G
  hgvsp: ENST00000356805.4:c.1533A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu511Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

2-54853280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853280
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853280
    reference: chr 2
allele count: 7
allele frequency: 5.767012687427912e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1514G>A
  hgvsp: ENSP00000334156.5:p.Arg505Lys
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1553G>A
  hgvsp: ENSP00000374630.3:p.Arg518Lys
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1553G>A
  hgvsp: ENSP00000349259.4:p.Arg518Lys
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg518Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-54853294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853294
    reference: chr 2
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1567C>T
  hgvsp: ENSP00000374630.3:p.Arg523Trp
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1528C>T
  hgvsp: ENSP00000334156.5:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1567C>T
  hgvsp: ENSP00000349259.4:p.Arg523Trp
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg523Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-54853295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853295
    reference: chr 2
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1568G>A
  hgvsp: ENSP00000374630.3:p.Arg523Gln
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1529G>A
  hgvsp: ENSP00000334156.5:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1568G>A
  hgvsp: ENSP00000349259.4:p.Arg523Gln
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg523Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-54853296-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853296
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853296
    reference: chr 2
allele count: 14
allele frequency: 1.154334526145677e-4
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1569G>C
  hgvsp: ENST00000356805.4:c.1569G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1530G>C
  hgvsp: ENST00000333896.5:c.1530G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1569G>C
  hgvsp: ENST00000389980.3:c.1569G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
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genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 571
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genotype quality: GenotypeQuality
  all individuals: 54547
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 923
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  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg523Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-54853299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853299
    reference: chr 2
allele count: 4
allele frequency: 3.298533801725133e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1533C>T
  hgvsp: ENST00000333896.5:c.1533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1572C>T
  hgvsp: ENST00000389980.3:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1572C>T
  hgvsp: ENST00000356805.4:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 264
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 127
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 53
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genotype quality: GenotypeQuality
  all individuals: 54573
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 915
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu524Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

2-54853300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853300
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853300
    reference: chr 2
allele count: 3
allele frequency: 2.475615190374808e-5
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1573G>A
  hgvsp: ENSP00000349259.4:p.Glu525Lys
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1573G>A
  hgvsp: ENSP00000374630.3:p.Glu525Lys
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1534G>A
  hgvsp: ENSP00000334156.5:p.Glu512Lys
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 132
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54547
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 565
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu525Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-54853303-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853303
    reference: chr 2
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1576A>T
  hgvsp: ENSP00000349259.4:p.Met526Leu
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1576A>T
  hgvsp: ENSP00000374630.3:p.Met526Leu
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1537A>T
  hgvsp: ENSP00000334156.5:p.Met513Leu
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met526Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-54853311-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853311
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853311
    reference: chr 2
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1545G>C
  hgvsp: ENST00000333896.5:c.1545G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1584G>C
  hgvsp: ENST00000389980.3:c.1584G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1584G>C
  hgvsp: ENST00000356805.4:c.1584G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu528Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-54853335-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853335
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853335
    reference: chr 2
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1608A>C
  hgvsp: ENSP00000374630.3:p.Glu536Asp
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1608A>C
  hgvsp: ENSP00000349259.4:p.Glu536Asp
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1569A>C
  hgvsp: ENSP00000334156.5:p.Glu523Asp
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu536Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

2-54853335-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853335
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853335
    reference: chr 2
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1569A>G
  hgvsp: ENST00000333896.5:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1608A>G
  hgvsp: ENST00000389980.3:c.1608A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1608A>G
  hgvsp: ENST00000356805.4:c.1608A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu536Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-54853341-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853341
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853341
    reference: chr 2
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1614C>G
  hgvsp: ENST00000389980.3:c.1614C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1614C>G
  hgvsp: ENST00000356805.4:c.1614C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1575C>G
  hgvsp: ENST00000333896.5:c.1575C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu538Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

2-54853342-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853342
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853342
    reference: chr 2
allele count: 1
allele frequency: 8.321821480285606e-6
allele num: 120166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1615T>C
  hgvsp: ENSP00000374630.3:p.Tyr539His
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1615T>C
  hgvsp: ENSP00000349259.4:p.Tyr539His
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1576T>C
  hgvsp: ENSP00000334156.5:p.Tyr526His
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  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: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 544
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53546
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr539His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-54853377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853377
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853377
    reference: chr 2
allele count: 2
allele frequency: 1.862891207153502e-5
allele num: 107360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1605+6A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1644+6A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1644+6A>G
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28641
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 901
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 339
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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
  all individuals: 121
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genotype quality: GenotypeQuality
  all individuals: 217
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1644+6A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-54853384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853384
    reference: chr 2
allele count: 3
allele frequency: 2.900792883388126e-5
allele num: 103420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1644+13C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1605+13C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1644+13C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 375
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-54853385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853385
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853385
    reference: chr 2
allele count: 22
allele frequency: 2.164757743928838e-4
allele num: 101628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1644+14G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1644+14G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1605+14G>A
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21501
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
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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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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  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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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 98
  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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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
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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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genotype quality: GenotypeQuality
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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: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-54853388-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853388
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853388
    reference: chr 2
allele count: 1
allele frequency: 9.986617931971158e-6
allele num: 100134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1644+17A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1644+17A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1605+17A>G
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 900
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

2-54853394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853394
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853394
    reference: chr 2
allele count: 1
allele frequency: 1.029526829469176e-5
allele num: 97132
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1644+23G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1644+23G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1605+23G>A
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
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genotype depth: GenotypeDepth
  all individuals: 46
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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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  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-54853396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853396
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853396
    reference: chr 2
allele count: 1
allele frequency: 1.047756752792272e-5
allele num: 95442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1644+25C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1644+25C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1605+25C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 7.5e0
  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: 1
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-54853397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853397
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853397
    reference: chr 2
allele count: 3
allele frequency: 3.180256964762753e-5
allele num: 94332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1605+26G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1644+26G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1644+26G>A
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
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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
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-54853401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853401
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853401
    reference: chr 2
allele count: 4
allele frequency: 4.309230371455658e-5
allele num: 92824
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1644+30G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1644+30G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1605+30G>A
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26425
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5901
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10243
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6939
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

2-54853416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853416
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853416
    reference: chr 2
allele count: 6
allele frequency: 7.560102817398316e-5
allele num: 79364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1605+45G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1644+45G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1644+45G>A
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17244
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22783
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4543
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 19760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

2-54853420-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54853420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54853420
    reference: chr 2
allele count: 2
allele frequency: 2.640891564992342e-5
allele num: 75732
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1644+49T>C
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1605+49T>C
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1644+49T>C
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10312
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21580
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 190
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genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-54855195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855195
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855195
    reference: chr 2
allele count: 1
allele frequency: 8.839232047519711e-6
allele num: 113132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1645-39A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1606-39A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1645-39A>G
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21657
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  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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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

2-54855196-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855196
    reference: chr 2
allele count: 1
allele frequency: 8.835795575033575e-6
allele num: 113176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1606-38T>C
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1645-38T>C
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1645-38T>C
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-54855202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855202
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855202
    reference: chr 2
allele count: 1
allele frequency: 8.812902088657796e-6
allele num: 113470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1606-32C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1645-32C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1645-32C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20338
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
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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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40396
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 209
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 164
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genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 564
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS

2-54855209-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855209
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855209
    reference: chr 2
allele count: 1
allele frequency: 8.777319406653208e-6
allele num: 113930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1606-25C>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1645-25C>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1645-25C>G
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20803
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
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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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  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
  all individuals: 1115
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 565
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 271
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genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-54855210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855210
    reference: chr 2
allele count: 1
allele frequency: 8.771468168342018e-6
allele num: 114006
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1645-24C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1606-24C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1645-24C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20917
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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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
  all individuals: 389
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

2-54855218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855218
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855218
    reference: chr 2
allele count: 16
allele frequency: 1.393412641736192e-4
allele num: 114826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1606-16T>C
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1645-16T>C
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1645-16T>C
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25722
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21235
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-54855220-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855220
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855220
    reference: chr 2
allele count: 1
allele frequency: 8.697316008279845e-6
allele num: 114978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1606-14C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1645-14C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1645-14C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5996
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-54855224-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855224
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855224
    reference: chr 2
allele count: 6
allele frequency: 5.188964801522096e-5
allele num: 115630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1645-10T>C
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1606-10T>C
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1645-10T>C
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 1
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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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  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
  all individuals: 126
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2894
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-54855229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855229
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855229
    reference: chr 2
allele count: 1
allele frequency: 8.608667206143144e-6
allele num: 116162
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1645-5C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1645-5C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1606-5C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1115
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1645-5C>T
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-54855230-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855230
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855230
    reference: chr 2
allele count: 186
allele frequency: 1.597471528934847e-3
allele num: 116434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1645-4A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1606-4A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1645-4A>G
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21736
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 26979
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 9.75e1
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 6098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45222
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1645-4A>G
num of homozygotes: 3
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-54855242-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855242
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855242
    reference: chr 2
allele count: 9
allele frequency: 7.604048733503438e-5
allele num: 118358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1614A>G
  hgvsp: ENST00000333896.5:c.1614A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1653A>G
  hgvsp: ENST00000389980.3:c.1653A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1653A>G
  hgvsp: ENST00000356805.4:c.1653A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Val551Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-54855247-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855247
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855247
    reference: chr 2
allele count: 1
allele frequency: 8.405904307185366e-6
allele num: 118964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1658C>A
  hgvsp: ENSP00000374630.3:p.Ser553Tyr
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1658C>A
  hgvsp: ENSP00000349259.4:p.Ser553Tyr
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1619C>A
  hgvsp: ENSP00000334156.5:p.Ser540Tyr
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22432
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 260
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47237
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
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genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 292
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genotype quality: GenotypeQuality
  all individuals: 1265
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genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser553Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-54855256-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855256
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855256
    reference: chr 2
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1667A>G
  hgvsp: ENSP00000374630.3:p.Tyr556Cys
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1667A>G
  hgvsp: ENSP00000349259.4:p.Tyr556Cys
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1628A>G
  hgvsp: ENSP00000334156.5:p.Tyr543Cys
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
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genotype quality: GenotypeQuality
  all individuals: 1045
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genotype quality: GenotypeQuality
  all individuals: 1334
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 48212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 173
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genotype quality: GenotypeQuality
  all individuals: 6307
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr556Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-54855274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855274
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855274
    reference: chr 2
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1685G>A
  hgvsp: ENSP00000374630.3:p.Gly562Asp
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1646G>A
  hgvsp: ENSP00000334156.5:p.Gly549Asp
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1685G>A
  hgvsp: ENSP00000349259.4:p.Gly562Asp
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly562Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

2-54855278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855278
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855278
    reference: chr 2
allele count: 31
allele frequency: 2.561136814276272e-4
allele num: 121040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1650G>A
  hgvsp: ENST00000333896.5:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1689G>A
  hgvsp: ENST00000356805.4:c.1689G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1689G>A
  hgvsp: ENST00000389980.3:c.1689G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23334
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6362
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 237
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genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 48844
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val563Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-54855297-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855297
    reference: chr 2
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1708C>G
  hgvsp: ENSP00000374630.3:p.His570Asp
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1669C>G
  hgvsp: ENSP00000334156.5:p.His557Asp
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1708C>G
  hgvsp: ENSP00000349259.4:p.His570Asp
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
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genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 77
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genotype quality: GenotypeQuality
  all individuals: 6362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1367
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 79
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 48862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His570Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-54855306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855306
    reference: chr 2
allele count: 2
allele frequency: 1.651036851142517e-5
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1717G>A
  hgvsp: ENSP00000349259.4:p.Val573Ile
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1678G>A
  hgvsp: ENSP00000334156.5:p.Val560Ile
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1717G>A
  hgvsp: ENSP00000374630.3:p.Val573Ile
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 48890
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 232
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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
  all individuals: 70
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genotype quality: GenotypeQuality
  all individuals: 1310
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genotype quality: GenotypeQuality
  all individuals: 6373
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val573Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-54855338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855338
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855338
    reference: chr 2
allele count: 5
allele frequency: 4.143875352229405e-5
allele num: 120660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1749G>A
  hgvsp: ENST00000389980.3:c.1749G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1749G>A
  hgvsp: ENST00000356805.4:c.1749G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1710G>A
  hgvsp: ENST00000333896.5:c.1710G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg583Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-54855352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855352
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855352
    reference: chr 2
allele count: 2
allele frequency: 1.667139022723105e-5
allele num: 119966
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1763A>G
  hgvsp: ENSP00000349259.4:p.Asn588Ser
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1724A>G
  hgvsp: ENSP00000334156.5:p.Asn575Ser
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1763A>G
  hgvsp: ENSP00000374630.3:p.Asn588Ser
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27452
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 224
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genotype quality: GenotypeQuality
  all individuals: 47581
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genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
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genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn588Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-54855356-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855356
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855356
    reference: chr 2
allele count: 1
allele frequency: 8.353939717970996e-6
allele num: 119704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1728C>G
  hgvsp: ENST00000333896.5:c.1728C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1767C>G
  hgvsp: ENST00000389980.3:c.1767C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1767C>G
  hgvsp: ENST00000356805.4:c.1767C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 495
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
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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
  all individuals: 227
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genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala589Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

2-54855359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855359
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855359
    reference: chr 2
allele count: 8
allele frequency: 6.700279736679006e-5
allele num: 119398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1770C>T
  hgvsp: ENST00000389980.3:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1731C>T
  hgvsp: ENST00000333896.5:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1770C>T
  hgvsp: ENST00000356805.4:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 271
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 482
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genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 331
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genotype quality: GenotypeQuality
  all individuals: 211
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genotype quality: GenotypeQuality
  all individuals: 135
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser590Ser
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: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-54855360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855360
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855360
    reference: chr 2
allele count: 3
allele frequency: 2.515343595935205e-5
allele num: 119268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1771G>A
  hgvsp: ENSP00000374630.3:p.Ala591Thr
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1771G>A
  hgvsp: ENSP00000349259.4:p.Ala591Thr
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1732G>A
  hgvsp: ENSP00000334156.5:p.Ala578Thr
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  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
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23274
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46882
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala591Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-54855365-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855365
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855365
    reference: chr 2
allele count: 2
allele frequency: 1.685772083614295e-5
allele num: 118640
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1776G>A
  hgvsp: ENST00000356805.4:c.1776G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1776G>A
  hgvsp: ENST00000389980.3:c.1776G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1737G>A
  hgvsp: ENST00000333896.5:c.1737G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 7.5e0
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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: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 90
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genotype depth: GenotypeDepth
  all individuals: 251
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genotype depth: GenotypeDepth
  all individuals: 11
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genotype depth: GenotypeDepth
  all individuals: 35
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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
  all individuals: 1115
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genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
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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
  all individuals: 180
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln592Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-54855367-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855367
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855367
    reference: chr 2
allele count: 2
allele frequency: 1.695461250233126e-5
allele num: 117962
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1778A>G
  hgvsp: ENSP00000349259.4:p.Lys593Arg
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1739A>G
  hgvsp: ENSP00000334156.5:p.Lys580Arg
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1778A>G
  hgvsp: ENSP00000374630.3:p.Lys593Arg
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25399
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22741
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  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
  all individuals: 5534
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genotype quality: GenotypeQuality
  all individuals: 459
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genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Lys593Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

2-54855371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855371
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855371
    reference: chr 2
allele count: 2
allele frequency: 1.706688512279624e-5
allele num: 117186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1743C>T
  hgvsp: ENST00000333896.5:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1782C>T
  hgvsp: ENST00000389980.3:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1782C>T
  hgvsp: ENST00000356805.4:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
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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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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 616
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 448
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genotype quality: GenotypeQuality
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe594Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-54855372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855372
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855372
    reference: chr 2
allele count: 5
allele frequency: 4.274819602612769e-5
allele num: 116964
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1783G>A
  hgvsp: ENSP00000349259.4:p.Ala595Thr
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1783G>A
  hgvsp: ENSP00000374630.3:p.Ala595Thr
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1744G>A
  hgvsp: ENSP00000334156.5:p.Ala582Thr
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24392
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22249
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala595Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-54855372-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855372
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855372
    reference: chr 2
allele count: 2
allele frequency: 1.709927841045108e-5
allele num: 116964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1744G>T
  hgvsp: ENSP00000334156.5:p.Ala582Ser
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1783G>T
  hgvsp: ENSP00000374630.3:p.Ala595Ser
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1783G>T
  hgvsp: ENSP00000349259.4:p.Ala595Ser
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 43297
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
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genotype quality: GenotypeQuality
  all individuals: 625
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala595Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS

2-54855379-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855379
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855379
    reference: chr 2
allele count: 5
allele frequency: 4.324586137106679e-5
allele num: 115618
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1790A>G
  hgvsp: ENSP00000349259.4:p.Asp597Gly
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1790A>G
  hgvsp: ENSP00000374630.3:p.Asp597Gly
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1751A>G
  hgvsp: ENSP00000334156.5:p.Asp584Gly
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21364
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1006
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5116
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 118
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp597Gly
num of homozygotes: 1
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

2-54855380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855380
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855380
    reference: chr 2
allele count: 10
allele frequency: 8.67874748316323e-5
allele num: 115224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1791C>T
  hgvsp: ENST00000389980.3:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1752C>T
  hgvsp: ENST00000333896.5:c.1752C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1791C>T
  hgvsp: ENST00000356805.4:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21162
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22859
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1011
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genotype quality: GenotypeQuality
  all individuals: 606
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genotype quality: GenotypeQuality
  all individuals: 390
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genotype quality: GenotypeQuality
  all individuals: 62
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genotype quality: GenotypeQuality
  all individuals: 419
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp597Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

2-54855381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855381
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855381
    reference: chr 2
allele count: 3
allele frequency: 2.610602527063246e-5
allele num: 114916
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1792G>A
  hgvsp: ENSP00000349259.4:p.Gly598Arg
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1753G>A
  hgvsp: ENSP00000334156.5:p.Gly585Arg
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1792G>A
  hgvsp: ENSP00000374630.3:p.Gly598Arg
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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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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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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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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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.75e1
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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: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly598Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-54855394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855394
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855394
    reference: chr 2
allele count: 1
allele frequency: 9.031465626241827e-6
allele num: 110724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1798+7A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1798+7A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1759+7A>G
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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
  all individuals: 18680
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1798+7A>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

2-54855409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855409
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855409
    reference: chr 2
allele count: 23
allele frequency: 2.212261700940692e-4
allele num: 103966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1759+22C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1798+22C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1798+22C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype 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: 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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 90
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-54855417-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855417
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855417
    reference: chr 2
allele count: 1
allele frequency: 9.946487895124232e-6
allele num: 100538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1759+30C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1798+30C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1798+30C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
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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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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-54855418-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855418
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855418
    reference: chr 2
allele count: 2
allele frequency: 2.009444388626545e-5
allele num: 99530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1798+31C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1759+31C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1798+31C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 1.75e1
  variant carriers: 2
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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-54855419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855419
    reference: chr 2
allele count: 2
allele frequency: 2.01995717690785e-5
allele num: 99012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1759+32G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1798+32G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1798+32G>A
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-54855420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855420
    reference: chr 2
allele count: 2
allele frequency: 2.041649652919559e-5
allele num: 97960
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1798+33G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1759+33G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1798+33G>A
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26929
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-54855421-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855421
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855421
    reference: chr 2
allele count: 8
allele frequency: 8.165098287370634e-5
allele num: 97978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1759+34G>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1798+34G>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1798+34G>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 3.75e1
  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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  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
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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: 281
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

2-54855422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855422
    reference: chr 2
allele count: 1
allele frequency: 1.0314169606205e-5
allele num: 96954
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1798+35T>C
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1759+35T>C
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1798+35T>C
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
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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
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-54855426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855426
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855426
    reference: chr 2
allele count: 1
allele frequency: 1.065189603749467e-5
allele num: 93880
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1798+39C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1759+39C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1798+39C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12088
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  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
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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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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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 974
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-54855433-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54855433
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54855433
    reference: chr 2
allele count: 1
allele frequency: 1.140302864440795e-5
allele num: 87696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1798+46T>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1759+46T>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1798+46T>A
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
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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
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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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  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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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 229
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum

2-54856020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54856020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54856020
    reference: chr 2
allele count: 2
allele frequency: 1.858390633711206e-5
allele num: 107620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1799-50C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1799-50C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1760-50C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
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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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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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  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

2-54856021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54856021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54856021
    reference: chr 2
allele count: 1
allele frequency: 9.290054068114676e-6
allele num: 107642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1760-49C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1799-49C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1799-49C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
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 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
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-54856022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54856022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54856022
    reference: chr 2
allele count: 2
allele frequency: 1.857527630723507e-5
allele num: 107670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1799-48A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1799-48A>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1760-48A>G
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 9.75e1
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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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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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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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-54856029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54856029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54856029
    reference: chr 2
allele count: 1
allele frequency: 9.288500835965075e-6
allele num: 107660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1799-41G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1799-41G>A
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1760-41G>A
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 432
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

2-54856030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54856030
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54856030
    reference: chr 2
allele count: 1
allele frequency: 9.288328286674964e-6
allele num: 107662
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1799-40C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1760-40C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1799-40C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
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genotype depth: GenotypeDepth
  all individuals: 268
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

2-54856034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54856034
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54856034
    reference: chr 2
allele count: 1
allele frequency: 9.286775631500742e-6
allele num: 107680
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1799-36C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1760-36C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1799-36C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.75e1
  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 quality: GenotypeQuality
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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: 2281
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

2-54856036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54856036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54856036
    reference: chr 2
allele count: 2
allele frequency: 1.85776919075574e-5
allele num: 107656
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1799-34C>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1760-34C>G
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1799-34C>G
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

2-54856036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54856036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54856036
    reference: chr 2
allele count: 1
allele frequency: 9.288845953778702e-6
allele num: 107656
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000349259
  ensembl transcript: ENST00000356805
  gene symbol: SPTBN1
  hgvsc: ENST00000356805.4:c.1799-34C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000334156
  ensembl transcript: ENST00000333896
  gene symbol: SPTBN1
  hgvsc: ENST00000333896.5:c.1760-34C>T
  variant of: http://identifiers.org/hgnc/11275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115306
  ensembl protein: ENSP00000374630
  ensembl transcript: ENST00000389980
  gene symbol: SPTBN1
  hgvsc: ENST00000389980.3:c.1799-34C>T
  variant of: http://identifiers.org/hgnc/11275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
reference allele: C

GenotypeQuality
all individuals: 54810
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.437174e6

VQSLOD
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.319e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 1.437174e6

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.288e1

FS
type: SiteQuality
SIO_000300: 1.404e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.796e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.436349e6

GenotypeQuality
all individuals: 918
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.486e1

VQSLOD
type: SiteQuality
SIO_000300: -2.353e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

FS
type: SiteQuality
SIO_000300: 1.4885e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.436447e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 612
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
SIO_000300: 1.436249e6

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

FS
type: SiteQuality
SIO_000300: 8.173e0

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 8.795e0

VQSLOD
type: SiteQuality
SIO_000300: -8.306e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.28e-1

QD
type: SiteQuality
SIO_000300: 8.77e0

DP
type: SiteQuality
SIO_000300: 1.436059e6

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.992266650680415e-5
allele num: 66724
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.058e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.083e0

DP
type: SiteQuality
SIO_000300: 1.434888e6

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 913
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 3.561e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.252e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 1.431522e6

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
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QD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 1.430986e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
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allele count: 6
allele frequency: 5.186721991701245e-4
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 8.998200359928014e-5
allele num: 66680
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 1.93012931866435e-4
allele num: 10362
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.431769e6

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

FS
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.83e-1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

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

FS
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VQSLOD
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DP
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.072e0

MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10336
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
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Other
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allele num: 902
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
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allele num: 904
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.428421e6

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10334
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.57e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

Other
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allele frequency: 1.111111111111111e-3
allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.420149e6

QD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508523155830442e-5
allele num: 66290
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
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DP
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FS
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MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.489e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

South Asian
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African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.512538947877908e-5
allele num: 66114
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.109e0

FS
type: SiteQuality
SIO_000300: 1.2865e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51336299524804e-5
allele num: 66078
num of homozygotes: 0

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

MQ
type: SiteQuality
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FS
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 2.637826431020839e-4
allele num: 7582
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 59812
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Other
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allele frequency: 0.0e0
allele num: 820
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

BaseQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.195188e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 3

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

European (Non-Finnish)
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allele frequency: 5.190311418685121e-5
allele num: 57800
num of homozygotes: 0

East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 768
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European (Finnish)
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African
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South Asian
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allele frequency: 1.539171925504079e-3
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European (Non-Finnish)
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allele frequency: 3.517287467904752e-5
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num of homozygotes: 0

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

East Asian
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European (Non-Finnish)
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allele frequency: 1.7821499857428e-5
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num of homozygotes: 0

Latino
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South Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Finnish)
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South Asian
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Latino
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East Asian
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African
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Other
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InbreedingCoeff
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FS
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DP
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VQSLOD
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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East Asian
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Other
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African
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allele num: 8132
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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MQRankSum
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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ReadPosRankSum
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SIO_000300: -7.6e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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QD
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DP
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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Other
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African
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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MQ
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VQSLOD
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GenotypeQuality
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Latino
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East Asian
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South Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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MQRankSum
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DP
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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DP
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ReadPosRankSum
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MQ
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FS
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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Other
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South Asian
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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Other
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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FS
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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Other
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ReadPosRankSum
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MQ
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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South Asian
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Other
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Latino
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European (Non-Finnish)
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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Latino
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South Asian
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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MQ
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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African
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South Asian
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
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DP
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MQ
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VQSLOD
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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FS
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ClippingRankSum
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MQ
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QD
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.490376e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65404
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South Asian
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allele frequency: 7.722007722007723e-5
allele num: 12950
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6588
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African
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allele frequency: 0.0e0
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Latino
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VQSLOD
type: SiteQuality
SIO_000300: -5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.762e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.807e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10286
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European (Non-Finnish)
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allele frequency: 1.527650473571647e-5
allele num: 65460
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11490
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
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allele frequency: 2.078012537729278e-2
allele num: 8614
num of homozygotes: 3

South Asian
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allele frequency: 3.8028597505324e-4
allele num: 13148
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Other
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allele num: 848
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
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DP
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SIO_000300: 1.507337e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

QD
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.365249840720852e-4
allele num: 65922
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6600
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Other
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allele frequency: 0.0e0
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.785e0

BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.468e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66054
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South Asian
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allele count: 1
allele frequency: 6.702412868632708e-5
allele num: 14920
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African
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
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InbreedingCoeff
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SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.530395e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11556
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

FS
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.544319e6

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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African
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allele frequency: 9.628345850182938e-5
allele num: 10386
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.087e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Other
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allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

Latino
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allele count: 31
allele frequency: 2.681197024736205e-3
allele num: 11562
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.558268e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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BaseQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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MQRankSum
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MQ
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DP
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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allele frequency: 1.729505361466621e-4
allele num: 11564
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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MQ
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ClippingRankSum
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MQRankSum
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DP
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.532162333162604e-5
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South Asian
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East Asian
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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DP
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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Latino
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allele frequency: 8.713837574067619e-5
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Other
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East Asian
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African
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allele frequency: 9.731413001167769e-5
allele num: 10276
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European (Finnish)
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allele num: 6540
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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FS
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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Latino
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South Asian
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African
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European (Finnish)
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Other
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East Asian
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allele frequency: 1.161710037174721e-4
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QD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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num of homozygotes: 0

East Asian
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 9.111617312072893e-5
allele num: 65850
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Other
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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GenotypeQuality
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variant carriers: 0

South Asian
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Latino
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East Asian
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African
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allele num: 10208
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.03951367781155e-5
allele num: 65800
num of homozygotes: 0

Other
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.529923e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8570
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65534
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6496
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South Asian
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allele count: 2
allele frequency: 1.278772378516624e-4
allele num: 15640
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Latino
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allele frequency: 0.0e0
allele num: 11372
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.487e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10122
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6472
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.06569790612833e-5
allele num: 65238
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11340
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South Asian
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VQSLOD
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MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
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FS
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MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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variant carriers: 2

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6430
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.541402059313151e-5
allele num: 64876
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African
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allele frequency: 0.0e0
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Latino
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.598046978094485e-5
allele num: 15156
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MQ
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.487636e6

VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.013e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

Latino
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allele frequency: 8.869966294128082e-5
allele num: 11274
num of homozygotes: 0

African
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.087277330122565e-5
allele num: 64782
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South Asian
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allele frequency: 1.325556733828208e-4
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Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
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MQ
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.9e-1

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.484165e6

GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.087277330122565e-5
allele num: 64782
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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East Asian
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South Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6422
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.484165e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

FS
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.795447458684128e-5
allele num: 64140
num of homozygotes: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6338
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 1.452083e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.01450443190975e-4
allele num: 9928
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63978
num of homozygotes: 0

Other
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allele count: 0
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Latino
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allele frequency: 6.275775506544738e-4
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South Asian
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allele frequency: 6.850253459377997e-5
allele num: 14598
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East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.192179303767287e-4
allele num: 8388
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African
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Latino
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allele frequency: 8.999280057595392e-5
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.566514192618585e-5
allele num: 63836
num of homozygotes: 0

South Asian
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MQ
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.620482903905364e-5
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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Latino
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South Asian
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MQ
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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QD
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

African
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 10024
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European (Finnish)
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South Asian
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allele frequency: 1.874796217802413e-3
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Other
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FS
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MQ
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QD
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 56656
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East Asian
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African
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Latino
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South Asian
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European (Finnish)
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Other
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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variant carriers: 0

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

African
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Other
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Latino
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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allele num: 55916
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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FS
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 720
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African
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 2.113271344040575e-4
allele num: 9464
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 55484
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

MQRankSum
type: SiteQuality
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MQ
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.35516e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 7142
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.606202668589975e-5
allele num: 55460
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.066098081023454e-3
allele num: 5628
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 9.33575e5

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5594
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.819372680299833e-5
allele num: 54964
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.508e0

DP
type: SiteQuality
SIO_000300: 9.15011e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6834
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.872659176029963e-5
allele num: 53400
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5472
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9036
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Other
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

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

InbreedingCoeff
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DP
type: SiteQuality
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QD
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SIO_000300: 1.404e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

East Asian
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allele count: 0
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Other
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allele frequency: 0.0e0
allele num: 640
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9070
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European (Non-Finnish)
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allele frequency: 1.991079961771265e-5
allele num: 50224
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 8.4485e5

MQ
type: SiteQuality
SIO_000300: 5.388e1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.229974160206718e-5
allele num: 61920
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Other
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.614413483581415e-5
allele num: 61942
num of homozygotes: 0

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.206531332744925e-4
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

East Asian
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Latino
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allele frequency: 8.759635599159075e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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African
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QD
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
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allele frequency: 1.101564221194096e-4
allele num: 9078
num of homozygotes: 0

Latino
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African
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Other
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East Asian
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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QD
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BaseQRankSum
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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South Asian
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Other
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African
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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DP
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 3.229765519023319e-5
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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