7-73477656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477656
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477656
    reference: chr 7
allele count: 1
allele frequency: 5.501155242600946e-5
allele num: 18178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.1974C>T
  hgvsp: ENST00000320399.6:c.1974C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1890C>T
  hgvsp: ENST00000357036.5:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1788C>T
  hgvsp: ENST00000380575.4:c.1788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1818C>T
  hgvsp: ENST00000380576.5:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1875C>T
  hgvsp: ENST00000445912.1:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1467C>T
  hgvsp: ENST00000380553.4:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1875C>T
  hgvsp: ENST00000252034.7:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1803C>T
  hgvsp: ENST00000414324.1:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1632C>T
  hgvsp: ENST00000320492.7:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1833C>T
  hgvsp: ENST00000429192.1:c.1833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2079C>T
  hgvsp: ENST00000358929.4:c.2079C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1893C>T
  hgvsp: ENST00000380562.4:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1845C>T
  hgvsp: ENST00000458204.1:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1731C>T
  hgvsp: ENST00000380584.4:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala625Ala
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-73477657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477657
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477657
    reference: chr 7
allele count: 2
allele frequency: 1.090393632101189e-4
allele num: 18342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1819G>A
  hgvsp: ENSP00000369950.5:p.Ala607Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1894G>A
  hgvsp: ENSP00000369936.4:p.Ala632Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1804G>A
  hgvsp: ENSP00000392575.1:p.Ala602Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1732G>A
  hgvsp: ENSP00000369958.4:p.Ala578Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1891G>A
  hgvsp: ENSP00000349540.5:p.Ala631Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.1975G>A
  hgvsp: ENSP00000313565.6:p.Ala659Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1876G>A
  hgvsp: ENSP00000389857.1:p.Ala626Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1789G>A
  hgvsp: ENSP00000369949.4:p.Ala597Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1468G>A
  hgvsp: ENSP00000369926.4:p.Ala490Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2080G>A
  hgvsp: ENSP00000351807.4:p.Ala694Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1846G>A
  hgvsp: ENSP00000403162.1:p.Ala616Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1876G>A
  hgvsp: ENSP00000252034.7:p.Ala626Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1834G>A
  hgvsp: ENSP00000391129.1:p.Ala612Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1633G>A
  hgvsp: ENSP00000315607.7:p.Ala545Thr
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala626Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

7-73477659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477659
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477659
    reference: chr 7
allele count: 1
allele frequency: 5.410669840926307e-5
allele num: 18482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1896C>T
  hgvsp: ENST00000380562.4:c.1896C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1878C>T
  hgvsp: ENST00000252034.7:c.1878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1821C>T
  hgvsp: ENST00000380576.5:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.1977C>T
  hgvsp: ENST00000320399.6:c.1977C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1635C>T
  hgvsp: ENST00000320492.7:c.1635C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1848C>T
  hgvsp: ENST00000458204.1:c.1848C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1878C>T
  hgvsp: ENST00000445912.1:c.1878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1791C>T
  hgvsp: ENST00000380575.4:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1806C>T
  hgvsp: ENST00000414324.1:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1470C>T
  hgvsp: ENST00000380553.4:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1893C>T
  hgvsp: ENST00000357036.5:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1836C>T
  hgvsp: ENST00000429192.1:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2082C>T
  hgvsp: ENST00000358929.4:c.2082C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1734C>T
  hgvsp: ENST00000380584.4:c.1734C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32874
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala626Ala
num of homozygotes: 0
population: Other
population: East Asian
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: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-73477660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477660
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477660
    reference: chr 7
allele count: 1
allele frequency: 5.549389567147614e-5
allele num: 18020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1807G>A
  hgvsp: ENSP00000392575.1:p.Ala603Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1636G>A
  hgvsp: ENSP00000315607.7:p.Ala546Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1879G>A
  hgvsp: ENSP00000389857.1:p.Ala627Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.1978G>A
  hgvsp: ENSP00000313565.6:p.Ala660Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1735G>A
  hgvsp: ENSP00000369958.4:p.Ala579Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1849G>A
  hgvsp: ENSP00000403162.1:p.Ala617Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1822G>A
  hgvsp: ENSP00000369950.5:p.Ala608Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1894G>A
  hgvsp: ENSP00000349540.5:p.Ala632Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1879G>A
  hgvsp: ENSP00000252034.7:p.Ala627Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2083G>A
  hgvsp: ENSP00000351807.4:p.Ala695Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1792G>A
  hgvsp: ENSP00000369949.4:p.Ala598Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1471G>A
  hgvsp: ENSP00000369926.4:p.Ala491Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1897G>A
  hgvsp: ENSP00000369936.4:p.Ala633Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1837G>A
  hgvsp: ENSP00000391129.1:p.Ala613Thr
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32983
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala627Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

7-73477665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477665
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477665
    reference: chr 7
allele count: 6
allele frequency: 3.285870755750274e-4
allele num: 18260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1902C>T
  hgvsp: ENST00000380562.4:c.1902C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1827C>T
  hgvsp: ENST00000380576.5:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1884C>T
  hgvsp: ENST00000252034.7:c.1884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1842C>T
  hgvsp: ENST00000429192.1:c.1842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2088C>T
  hgvsp: ENST00000358929.4:c.2088C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1740C>T
  hgvsp: ENST00000380584.4:c.1740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.1983C>T
  hgvsp: ENST00000320399.6:c.1983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1812C>T
  hgvsp: ENST00000414324.1:c.1812C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1797C>T
  hgvsp: ENST00000380575.4:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1899C>T
  hgvsp: ENST00000357036.5:c.1899C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1641C>T
  hgvsp: ENST00000320492.7:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1476C>T
  hgvsp: ENST00000380553.4:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1854C>T
  hgvsp: ENST00000458204.1:c.1854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1884C>T
  hgvsp: ENST00000445912.1:c.1884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala628Ala
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

7-73477666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477666
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477666
    reference: chr 7
allele count: 3
allele frequency: 1.662049861495845e-4
allele num: 18050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1642G>A
  hgvsp: ENSP00000315607.7:p.Ala548Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1798G>A
  hgvsp: ENSP00000369949.4:p.Ala600Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2089G>A
  hgvsp: ENSP00000351807.4:p.Ala697Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1885G>A
  hgvsp: ENSP00000252034.7:p.Ala629Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1741G>A
  hgvsp: ENSP00000369958.4:p.Ala581Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1903G>A
  hgvsp: ENSP00000369936.4:p.Ala635Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1885G>A
  hgvsp: ENSP00000389857.1:p.Ala629Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1477G>A
  hgvsp: ENSP00000369926.4:p.Ala493Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1855G>A
  hgvsp: ENSP00000403162.1:p.Ala619Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1813G>A
  hgvsp: ENSP00000392575.1:p.Ala605Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1900G>A
  hgvsp: ENSP00000349540.5:p.Ala634Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1843G>A
  hgvsp: ENSP00000391129.1:p.Ala615Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.1984G>A
  hgvsp: ENSP00000313565.6:p.Ala662Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1828G>A
  hgvsp: ENSP00000369950.5:p.Ala610Thr
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala629Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-73477682-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477682
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477682
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 17386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1757C>A
  hgvsp: ENSP00000369958.4:p.Ala586Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1919C>A
  hgvsp: ENSP00000369936.4:p.Ala640Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2105C>A
  hgvsp: ENSP00000351807.4:p.Ala702Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1859C>A
  hgvsp: ENSP00000391129.1:p.Ala620Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1829C>A
  hgvsp: ENSP00000392575.1:p.Ala610Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1901C>A
  hgvsp: ENSP00000389857.1:p.Ala634Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1916C>A
  hgvsp: ENSP00000349540.5:p.Ala639Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2000C>A
  hgvsp: ENSP00000313565.6:p.Ala667Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1871C>A
  hgvsp: ENSP00000403162.1:p.Ala624Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1844C>A
  hgvsp: ENSP00000369950.5:p.Ala615Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1901C>A
  hgvsp: ENSP00000252034.7:p.Ala634Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1658C>A
  hgvsp: ENSP00000315607.7:p.Ala553Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1493C>A
  hgvsp: ENSP00000369926.4:p.Ala498Asp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1814C>A
  hgvsp: ENSP00000369949.4:p.Ala605Asp
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala634Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

7-73477689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477689
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477689
    reference: chr 7
allele count: 1
allele frequency: 5.777007510109763e-5
allele num: 17310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1908C>T
  hgvsp: ENST00000252034.7:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1836C>T
  hgvsp: ENST00000414324.1:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1500C>T
  hgvsp: ENST00000380553.4:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1665C>T
  hgvsp: ENST00000320492.7:c.1665C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1764C>T
  hgvsp: ENST00000380584.4:c.1764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1926C>T
  hgvsp: ENST00000380562.4:c.1926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2112C>T
  hgvsp: ENST00000358929.4:c.2112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1821C>T
  hgvsp: ENST00000380575.4:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1908C>T
  hgvsp: ENST00000445912.1:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2007C>T
  hgvsp: ENST00000320399.6:c.2007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1851C>T
  hgvsp: ENST00000380576.5:c.1851C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1923C>T
  hgvsp: ENST00000357036.5:c.1923C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1866C>T
  hgvsp: ENST00000429192.1:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1878C>T
  hgvsp: ENST00000458204.1:c.1878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala636Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

7-73477690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477690
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477690
    reference: chr 7
allele count: 1
allele frequency: 5.806526535826269e-5
allele num: 17222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1852G>A
  hgvsp: ENSP00000369950.5:p.Ala618Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1909G>A
  hgvsp: ENSP00000389857.1:p.Ala637Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1501G>A
  hgvsp: ENSP00000369926.4:p.Ala501Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2008G>A
  hgvsp: ENSP00000313565.6:p.Ala670Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1822G>A
  hgvsp: ENSP00000369949.4:p.Ala608Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1879G>A
  hgvsp: ENSP00000403162.1:p.Ala627Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1927G>A
  hgvsp: ENSP00000369936.4:p.Ala643Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1666G>A
  hgvsp: ENSP00000315607.7:p.Ala556Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1909G>A
  hgvsp: ENSP00000252034.7:p.Ala637Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1837G>A
  hgvsp: ENSP00000392575.1:p.Ala613Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1867G>A
  hgvsp: ENSP00000391129.1:p.Ala623Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1924G>A
  hgvsp: ENSP00000349540.5:p.Ala642Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2113G>A
  hgvsp: ENSP00000351807.4:p.Ala705Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1765G>A
  hgvsp: ENSP00000369958.4:p.Ala589Thr
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala637Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

7-73477695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477695
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477695
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 17192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1914G>A
  hgvsp: ENST00000252034.7:c.1914G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1932G>A
  hgvsp: ENST00000380562.4:c.1932G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1914G>A
  hgvsp: ENST00000445912.1:c.1914G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2118G>A
  hgvsp: ENST00000358929.4:c.2118G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1827G>A
  hgvsp: ENST00000380575.4:c.1827G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1671G>A
  hgvsp: ENST00000320492.7:c.1671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1857G>A
  hgvsp: ENST00000380576.5:c.1857G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2013G>A
  hgvsp: ENST00000320399.6:c.2013G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1884G>A
  hgvsp: ENST00000458204.1:c.1884G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1842G>A
  hgvsp: ENST00000414324.1:c.1842G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1506G>A
  hgvsp: ENST00000380553.4:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1770G>A
  hgvsp: ENST00000380584.4:c.1770G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1929G>A
  hgvsp: ENST00000357036.5:c.1929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1872G>A
  hgvsp: ENST00000429192.1:c.1872G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln638Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

7-73477697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477697
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477697
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 17192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1772T>C
  hgvsp: ENSP00000369958.4:p.Phe591Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1916T>C
  hgvsp: ENSP00000389857.1:p.Phe639Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1886T>C
  hgvsp: ENSP00000403162.1:p.Phe629Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2015T>C
  hgvsp: ENSP00000313565.6:p.Phe672Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1829T>C
  hgvsp: ENSP00000369949.4:p.Phe610Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1874T>C
  hgvsp: ENSP00000391129.1:p.Phe625Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1931T>C
  hgvsp: ENSP00000349540.5:p.Phe644Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1844T>C
  hgvsp: ENSP00000392575.1:p.Phe615Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1916T>C
  hgvsp: ENSP00000252034.7:p.Phe639Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2120T>C
  hgvsp: ENSP00000351807.4:p.Phe707Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1508T>C
  hgvsp: ENSP00000369926.4:p.Phe503Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1934T>C
  hgvsp: ENSP00000369936.4:p.Phe645Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1859T>C
  hgvsp: ENSP00000369950.5:p.Phe620Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1673T>C
  hgvsp: ENSP00000315607.7:p.Phe558Ser
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe639Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

7-73477718-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477718
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477718
    reference: chr 7
allele count: 3
allele frequency: 1.820388349514563e-4
allele num: 16480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+19T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+19T>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

7-73477728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477728
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477728
    reference: chr 7
allele count: 5
allele frequency: 3.027367401307822e-4
allele num: 16516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+29C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

7-73477729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477729
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477729
    reference: chr 7
allele count: 1
allele frequency: 6.02918123718799e-5
allele num: 16586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+30G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-73477729-G-GCCAGGCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477729
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477737
    reference: chr 7
allele count: 12
allele frequency: 7.235017484625587e-4
allele num: 16586
alternate allele: GCCAGGCCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33413
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

7-73477733-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477733
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477733
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 16350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+34G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+34G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33692
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/7-73477737-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477737
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477737
    reference: chr 7
allele count: 1
allele frequency: 6.020469596628537e-5
allele num: 16610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+38C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+38C>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

7-73477738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477738
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477738
    reference: chr 7
allele count: 8
allele frequency: 4.788698671136119e-4
allele num: 16706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+39C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+39C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-73477741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477741
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477741
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 16884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+42G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33757
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10363
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/7-73477743-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477743
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477743
    reference: chr 7
allele count: 1
allele frequency: 5.901097604154373e-5
allele num: 16946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+44C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+44C>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

7-73477743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477743
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477743
    reference: chr 7
allele count: 10
allele frequency: 5.901097604154372e-4
allele num: 16946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+44C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33567
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

7-73477746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477746
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477746
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 17182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+47C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12225
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33118
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-73477751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477751
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477751
    reference: chr 7
allele count: 1
allele frequency: 5.688929343497554e-5
allele num: 17578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1888+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1861+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2122+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1936+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1846+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1876+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1918+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1510+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1933+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1831+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2017+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1675+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1774+52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1918+52G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

7-73477913-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477913
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477913
    reference: chr 7
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1919-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2123-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1937-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1934-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1862-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1676-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1919-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2018-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1832-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1889-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1511-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1847-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1877-38T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1775-38T>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-73477918-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477918
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477918
    reference: chr 7
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2123-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2018-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1919-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1934-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1862-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1937-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1877-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1511-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1676-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1847-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1832-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1889-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1919-33C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1775-33C>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

7-73477921-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477921
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477921
    reference: chr 7
allele count: 6
allele frequency: 4.94266508501384e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1919-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1877-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1937-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1511-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1934-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1919-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1775-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1889-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2018-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1847-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1676-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1832-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2123-30G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1862-30G>C
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-73477922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477922
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477922
    reference: chr 7
allele count: 178
allele frequency: 1.466348134113189e-3
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2123-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1877-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1937-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1862-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1511-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1919-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2018-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1919-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1676-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1889-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1934-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1847-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1832-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1775-29C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

7-73477923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477923
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477923
    reference: chr 7
allele count: 162
allele frequency: 1.334519572953737e-3
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1934-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1676-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1775-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1877-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1511-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2018-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1832-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1919-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1847-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1862-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1937-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2123-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1889-28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1919-28G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 9.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

7-73477944-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477944
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477944
    reference: chr 7
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1511-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1937-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1919-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1862-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2123-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1889-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1775-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1847-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1832-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1919-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2018-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1676-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1934-7T>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1877-7T>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1919-7T>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

7-73477948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477948
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477948
    reference: chr 7
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1919-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1676-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1934-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1832-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1847-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1919-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1511-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1877-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2123-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1889-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1862-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1775-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1937-3C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2018-3C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1919-3C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

7-73477958-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477958
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477958
    reference: chr 7
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1869G>T
  hgvsp: ENST00000380576.5:c.1869G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1941G>T
  hgvsp: ENST00000357036.5:c.1941G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1944G>T
  hgvsp: ENST00000380562.4:c.1944G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1839G>T
  hgvsp: ENST00000380575.4:c.1839G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1854G>T
  hgvsp: ENST00000414324.1:c.1854G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1518G>T
  hgvsp: ENST00000380553.4:c.1518G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2130G>T
  hgvsp: ENST00000358929.4:c.2130G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1884G>T
  hgvsp: ENST00000429192.1:c.1884G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2025G>T
  hgvsp: ENST00000320399.6:c.2025G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1896G>T
  hgvsp: ENST00000458204.1:c.1896G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1926G>T
  hgvsp: ENST00000445912.1:c.1926G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1683G>T
  hgvsp: ENST00000320492.7:c.1683G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1782G>T
  hgvsp: ENST00000380584.4:c.1782G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1926G>T
  hgvsp: ENST00000252034.7:c.1926G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val642Val
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

7-73477964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477964
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477964
    reference: chr 7
allele count: 10
allele frequency: 8.237775141689732e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2031C>T
  hgvsp: ENST00000320399.6:c.2031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1932C>T
  hgvsp: ENST00000445912.1:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1845C>T
  hgvsp: ENST00000380575.4:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1524C>T
  hgvsp: ENST00000380553.4:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1860C>T
  hgvsp: ENST00000414324.1:c.1860C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2136C>T
  hgvsp: ENST00000358929.4:c.2136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1875C>T
  hgvsp: ENST00000380576.5:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1932C>T
  hgvsp: ENST00000252034.7:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1902C>T
  hgvsp: ENST00000458204.1:c.1902C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1950C>T
  hgvsp: ENST00000380562.4:c.1950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1947C>T
  hgvsp: ENST00000357036.5:c.1947C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1890C>T
  hgvsp: ENST00000429192.1:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1788C>T
  hgvsp: ENST00000380584.4:c.1788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1689C>T
  hgvsp: ENST00000320492.7:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala644Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-73477965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477965
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477965
    reference: chr 7
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1861G>A
  hgvsp: ENSP00000392575.1:p.Ala621Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2137G>A
  hgvsp: ENSP00000351807.4:p.Ala713Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1690G>A
  hgvsp: ENSP00000315607.7:p.Ala564Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2032G>A
  hgvsp: ENSP00000313565.6:p.Ala678Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1951G>A
  hgvsp: ENSP00000369936.4:p.Ala651Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1933G>A
  hgvsp: ENSP00000389857.1:p.Ala645Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1525G>A
  hgvsp: ENSP00000369926.4:p.Ala509Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1846G>A
  hgvsp: ENSP00000369949.4:p.Ala616Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1948G>A
  hgvsp: ENSP00000349540.5:p.Ala650Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1903G>A
  hgvsp: ENSP00000403162.1:p.Ala635Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1933G>A
  hgvsp: ENSP00000252034.7:p.Ala645Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1789G>A
  hgvsp: ENSP00000369958.4:p.Ala597Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1876G>A
  hgvsp: ENSP00000369950.5:p.Ala626Thr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1891G>A
  hgvsp: ENSP00000391129.1:p.Ala631Thr
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala645Thr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

7-73477965-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477965
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477965
    reference: chr 7
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1951G>T
  hgvsp: ENSP00000369936.4:p.Ala651Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1933G>T
  hgvsp: ENSP00000252034.7:p.Ala645Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2137G>T
  hgvsp: ENSP00000351807.4:p.Ala713Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1846G>T
  hgvsp: ENSP00000369949.4:p.Ala616Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1903G>T
  hgvsp: ENSP00000403162.1:p.Ala635Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1690G>T
  hgvsp: ENSP00000315607.7:p.Ala564Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1861G>T
  hgvsp: ENSP00000392575.1:p.Ala621Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1933G>T
  hgvsp: ENSP00000389857.1:p.Ala645Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1525G>T
  hgvsp: ENSP00000369926.4:p.Ala509Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1876G>T
  hgvsp: ENSP00000369950.5:p.Ala626Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1789G>T
  hgvsp: ENSP00000369958.4:p.Ala597Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2032G>T
  hgvsp: ENSP00000313565.6:p.Ala678Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1891G>T
  hgvsp: ENSP00000391129.1:p.Ala631Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1948G>T
  hgvsp: ENSP00000349540.5:p.Ala650Ser
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala645Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

7-73477970-G-GCTCGGAGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477970
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477979
    reference: chr 7
allele count: 13
allele frequency: 1.070928412554576e-4
allele num: 121390
alternate allele: GCTCGGAGGA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsp: ENSP00000403162.1:p.Gly639_Gly641dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsp: ENSP00000392575.1:p.Gly625_Gly627dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsp: ENSP00000349540.5:p.Gly654_Gly656dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsp: ENSP00000369949.4:p.Gly620_Gly622dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsp: ENSP00000369936.4:p.Gly655_Gly657dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsp: ENSP00000351807.4:p.Gly717_Gly719dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsp: ENSP00000252034.7:p.Gly649_Gly651dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsp: ENSP00000315607.7:p.Gly568_Gly570dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsp: ENSP00000369926.4:p.Gly513_Gly515dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsp: ENSP00000369958.4:p.Gly601_Gly603dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsp: ENSP00000391129.1:p.Gly635_Gly637dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsp: ENSP00000313565.6:p.Gly682_Gly684dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsp: ENSP00000389857.1:p.Gly649_Gly651dup
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsp: ENSP00000369950.5:p.Gly630_Gly632dup
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly649_Gly651dup
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

7-73477974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477974
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477974
    reference: chr 7
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1960G>A
  hgvsp: ENSP00000369936.4:p.Gly654Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2041G>A
  hgvsp: ENSP00000313565.6:p.Gly681Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1900G>A
  hgvsp: ENSP00000391129.1:p.Gly634Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2146G>A
  hgvsp: ENSP00000351807.4:p.Gly716Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1699G>A
  hgvsp: ENSP00000315607.7:p.Gly567Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1885G>A
  hgvsp: ENSP00000369950.5:p.Gly629Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1870G>A
  hgvsp: ENSP00000392575.1:p.Gly624Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1957G>A
  hgvsp: ENSP00000349540.5:p.Gly653Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1534G>A
  hgvsp: ENSP00000369926.4:p.Gly512Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1942G>A
  hgvsp: ENSP00000252034.7:p.Gly648Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1912G>A
  hgvsp: ENSP00000403162.1:p.Gly638Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1798G>A
  hgvsp: ENSP00000369958.4:p.Gly600Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1942G>A
  hgvsp: ENSP00000389857.1:p.Gly648Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1855G>A
  hgvsp: ENSP00000369949.4:p.Gly619Arg
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly648Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

7-73477975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477975
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477975
    reference: chr 7
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1943G>A
  hgvsp: ENSP00000252034.7:p.Gly648Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2147G>A
  hgvsp: ENSP00000351807.4:p.Gly716Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2042G>A
  hgvsp: ENSP00000313565.6:p.Gly681Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1958G>A
  hgvsp: ENSP00000349540.5:p.Gly653Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1871G>A
  hgvsp: ENSP00000392575.1:p.Gly624Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1886G>A
  hgvsp: ENSP00000369950.5:p.Gly629Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1700G>A
  hgvsp: ENSP00000315607.7:p.Gly567Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1856G>A
  hgvsp: ENSP00000369949.4:p.Gly619Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1799G>A
  hgvsp: ENSP00000369958.4:p.Gly600Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1961G>A
  hgvsp: ENSP00000369936.4:p.Gly654Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1535G>A
  hgvsp: ENSP00000369926.4:p.Gly512Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1943G>A
  hgvsp: ENSP00000389857.1:p.Gly648Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1913G>A
  hgvsp: ENSP00000403162.1:p.Gly638Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1901G>A
  hgvsp: ENSP00000391129.1:p.Gly634Glu
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly648Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

7-73477978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477978
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477978
    reference: chr 7
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1946G>A
  hgvsp: ENSP00000389857.1:p.Gly649Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1961G>A
  hgvsp: ENSP00000349540.5:p.Gly654Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1874G>A
  hgvsp: ENSP00000392575.1:p.Gly625Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2045G>A
  hgvsp: ENSP00000313565.6:p.Gly682Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1916G>A
  hgvsp: ENSP00000403162.1:p.Gly639Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1904G>A
  hgvsp: ENSP00000391129.1:p.Gly635Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1859G>A
  hgvsp: ENSP00000369949.4:p.Gly620Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1538G>A
  hgvsp: ENSP00000369926.4:p.Gly513Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1946G>A
  hgvsp: ENSP00000252034.7:p.Gly649Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2150G>A
  hgvsp: ENSP00000351807.4:p.Gly717Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1703G>A
  hgvsp: ENSP00000315607.7:p.Gly568Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1964G>A
  hgvsp: ENSP00000369936.4:p.Gly655Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1889G>A
  hgvsp: ENSP00000369950.5:p.Gly630Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1802G>A
  hgvsp: ENSP00000369958.4:p.Gly601Glu
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly649Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

7-73477978-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477978
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477978
    reference: chr 7
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1703G>C
  hgvsp: ENSP00000315607.7:p.Gly568Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2150G>C
  hgvsp: ENSP00000351807.4:p.Gly717Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1964G>C
  hgvsp: ENSP00000369936.4:p.Gly655Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1946G>C
  hgvsp: ENSP00000252034.7:p.Gly649Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2045G>C
  hgvsp: ENSP00000313565.6:p.Gly682Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1538G>C
  hgvsp: ENSP00000369926.4:p.Gly513Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1904G>C
  hgvsp: ENSP00000391129.1:p.Gly635Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1916G>C
  hgvsp: ENSP00000403162.1:p.Gly639Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1961G>C
  hgvsp: ENSP00000349540.5:p.Gly654Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1874G>C
  hgvsp: ENSP00000392575.1:p.Gly625Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1946G>C
  hgvsp: ENSP00000389857.1:p.Gly649Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1802G>C
  hgvsp: ENSP00000369958.4:p.Gly601Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1859G>C
  hgvsp: ENSP00000369949.4:p.Gly620Ala
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1889G>C
  hgvsp: ENSP00000369950.5:p.Gly630Ala
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly649Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

7-73477982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477982
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477982
    reference: chr 7
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1542C>T
  hgvsp: ENST00000380553.4:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2049C>T
  hgvsp: ENST00000320399.6:c.2049C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1950C>T
  hgvsp: ENST00000252034.7:c.1950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1806C>T
  hgvsp: ENST00000380584.4:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1908C>T
  hgvsp: ENST00000429192.1:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2154C>T
  hgvsp: ENST00000358929.4:c.2154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1920C>T
  hgvsp: ENST00000458204.1:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1968C>T
  hgvsp: ENST00000380562.4:c.1968C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1893C>T
  hgvsp: ENST00000380576.5:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1965C>T
  hgvsp: ENST00000357036.5:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1707C>T
  hgvsp: ENST00000320492.7:c.1707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1950C>T
  hgvsp: ENST00000445912.1:c.1950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1863C>T
  hgvsp: ENST00000380575.4:c.1863C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1878C>T
  hgvsp: ENST00000414324.1:c.1878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu650Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

7-73477982-CGGAGTCGGAGGGCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477982
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477967
    reference: chr 7
allele count: 10
allele frequency: 8.237910865804432e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsp: ENSP00000315607.7:p.Gly572_Val576del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsp: ENSP00000313565.6:p.Gly686_Val690del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsp: ENSP00000392575.1:p.Gly629_Val633del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsp: ENSP00000369949.4:p.Gly624_Val628del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsp: ENSP00000349540.5:p.Gly658_Val662del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsp: ENSP00000391129.1:p.Gly639_Val643del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsp: ENSP00000403162.1:p.Gly643_Val647del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsp: ENSP00000389857.1:p.Gly653_Val657del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsp: ENSP00000369950.5:p.Gly634_Val638del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsp: ENSP00000369936.4:p.Gly659_Val663del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsp: ENSP00000252034.7:p.Gly653_Val657del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsp: ENSP00000369958.4:p.Gly605_Val609del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsp: ENSP00000369926.4:p.Gly517_Val521del
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsp: ENSP00000351807.4:p.Gly721_Val725del
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly653_Val657del
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: CGGAGTCGGAGGGCTT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-73477982-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477982
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477982
    reference: chr 7
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1806C>A
  hgvsp: ENST00000380584.4:c.1806C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1950C>A
  hgvsp: ENST00000445912.1:c.1950C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1863C>A
  hgvsp: ENST00000380575.4:c.1863C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1920C>A
  hgvsp: ENST00000458204.1:c.1920C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1878C>A
  hgvsp: ENST00000414324.1:c.1878C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1542C>A
  hgvsp: ENST00000380553.4:c.1542C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2154C>A
  hgvsp: ENST00000358929.4:c.2154C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1908C>A
  hgvsp: ENST00000429192.1:c.1908C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1950C>A
  hgvsp: ENST00000252034.7:c.1950C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1968C>A
  hgvsp: ENST00000380562.4:c.1968C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2049C>A
  hgvsp: ENST00000320399.6:c.2049C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1893C>A
  hgvsp: ENST00000380576.5:c.1893C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1707C>A
  hgvsp: ENST00000320492.7:c.1707C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1965C>A
  hgvsp: ENST00000357036.5:c.1965C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu650Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-73477983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477983
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477983
    reference: chr 7
allele count: 4
allele frequency: 3.295761650517435e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1894G>A
  hgvsp: ENSP00000369950.5:p.Gly632Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1909G>A
  hgvsp: ENSP00000391129.1:p.Gly637Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1543G>A
  hgvsp: ENSP00000369926.4:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1966G>A
  hgvsp: ENSP00000349540.5:p.Gly656Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1951G>A
  hgvsp: ENSP00000252034.7:p.Gly651Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1951G>A
  hgvsp: ENSP00000389857.1:p.Gly651Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2155G>A
  hgvsp: ENSP00000351807.4:p.Gly719Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1969G>A
  hgvsp: ENSP00000369936.4:p.Gly657Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2050G>A
  hgvsp: ENSP00000313565.6:p.Gly684Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1879G>A
  hgvsp: ENSP00000392575.1:p.Gly627Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1864G>A
  hgvsp: ENSP00000369949.4:p.Gly622Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1708G>A
  hgvsp: ENSP00000315607.7:p.Gly570Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1921G>A
  hgvsp: ENSP00000403162.1:p.Gly641Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1807G>A
  hgvsp: ENSP00000369958.4:p.Gly603Arg
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly651Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-73477986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477986
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477986
    reference: chr 7
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1972G>A
  hgvsp: ENSP00000369936.4:p.Val658Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1912G>A
  hgvsp: ENSP00000391129.1:p.Val638Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1954G>A
  hgvsp: ENSP00000252034.7:p.Val652Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1711G>A
  hgvsp: ENSP00000315607.7:p.Val571Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1954G>A
  hgvsp: ENSP00000389857.1:p.Val652Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1810G>A
  hgvsp: ENSP00000369958.4:p.Val604Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1867G>A
  hgvsp: ENSP00000369949.4:p.Val623Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1897G>A
  hgvsp: ENSP00000369950.5:p.Val633Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1924G>A
  hgvsp: ENSP00000403162.1:p.Val642Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1546G>A
  hgvsp: ENSP00000369926.4:p.Val516Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2158G>A
  hgvsp: ENSP00000351807.4:p.Val720Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1882G>A
  hgvsp: ENSP00000392575.1:p.Val628Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2053G>A
  hgvsp: ENSP00000313565.6:p.Val685Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1969G>A
  hgvsp: ENSP00000349540.5:p.Val657Ile
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val652Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

7-73477989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477989
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477989
    reference: chr 7
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1714G>A
  hgvsp: ENSP00000315607.7:p.Gly572Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1900G>A
  hgvsp: ENSP00000369950.5:p.Gly634Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2056G>A
  hgvsp: ENSP00000313565.6:p.Gly686Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1957G>A
  hgvsp: ENSP00000252034.7:p.Gly653Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2161G>A
  hgvsp: ENSP00000351807.4:p.Gly721Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1549G>A
  hgvsp: ENSP00000369926.4:p.Gly517Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1885G>A
  hgvsp: ENSP00000392575.1:p.Gly629Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1927G>A
  hgvsp: ENSP00000403162.1:p.Gly643Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1813G>A
  hgvsp: ENSP00000369958.4:p.Gly605Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1975G>A
  hgvsp: ENSP00000369936.4:p.Gly659Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1870G>A
  hgvsp: ENSP00000369949.4:p.Gly624Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1972G>A
  hgvsp: ENSP00000349540.5:p.Gly658Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1915G>A
  hgvsp: ENSP00000391129.1:p.Gly639Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1957G>A
  hgvsp: ENSP00000389857.1:p.Gly653Arg
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly653Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

7-73477998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73477998
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73477998
    reference: chr 7
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2065G>A
  hgvsp: ENSP00000313565.6:p.Gly689Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1558G>A
  hgvsp: ENSP00000369926.4:p.Gly520Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1909G>A
  hgvsp: ENSP00000369950.5:p.Gly637Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2170G>A
  hgvsp: ENSP00000351807.4:p.Gly724Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1879G>A
  hgvsp: ENSP00000369949.4:p.Gly627Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1723G>A
  hgvsp: ENSP00000315607.7:p.Gly575Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1966G>A
  hgvsp: ENSP00000389857.1:p.Gly656Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.1984G>A
  hgvsp: ENSP00000369936.4:p.Gly662Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1894G>A
  hgvsp: ENSP00000392575.1:p.Gly632Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1822G>A
  hgvsp: ENSP00000369958.4:p.Gly608Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1966G>A
  hgvsp: ENSP00000252034.7:p.Gly656Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.1981G>A
  hgvsp: ENSP00000349540.5:p.Gly661Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1936G>A
  hgvsp: ENSP00000403162.1:p.Gly646Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1924G>A
  hgvsp: ENSP00000391129.1:p.Gly642Arg
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly656Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-73478017-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478017
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478017
    reference: chr 7
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1577G>T
  hgvsp: ENSP00000369926.4:p.Gly526Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2003G>T
  hgvsp: ENSP00000369936.4:p.Gly668Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1985G>T
  hgvsp: ENSP00000252034.7:p.Gly662Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1985G>T
  hgvsp: ENSP00000389857.1:p.Gly662Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1943G>T
  hgvsp: ENSP00000391129.1:p.Gly648Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1742G>T
  hgvsp: ENSP00000315607.7:p.Gly581Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1913G>T
  hgvsp: ENSP00000392575.1:p.Gly638Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1955G>T
  hgvsp: ENSP00000403162.1:p.Gly652Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2084G>T
  hgvsp: ENSP00000313565.6:p.Gly695Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1928G>T
  hgvsp: ENSP00000369950.5:p.Gly643Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1898G>T
  hgvsp: ENSP00000369949.4:p.Gly633Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1841G>T
  hgvsp: ENSP00000369958.4:p.Gly614Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2000G>T
  hgvsp: ENSP00000349540.5:p.Gly667Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2189G>T
  hgvsp: ENSP00000351807.4:p.Gly730Val
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly662Val
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

7-73478026-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478026
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478026
    reference: chr 7
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1963+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1951+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2008+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2011+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1993+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1750+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2197+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1921+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2092+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1585+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1993+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1936+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1906+1G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1849+1G>C
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1993+1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

7-73478029-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478029
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478029
    reference: chr 7
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1921+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1585+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1936+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1906+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1849+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2092+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2011+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1993+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1993+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2197+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1951+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2008+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1750+4A>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1963+4A>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1993+4A>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

7-73478030-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478030
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478030
    reference: chr 7
allele count: 4
allele frequency: 3.296250515039143e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2197+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2011+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1993+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1750+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1585+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1963+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1936+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1993+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2008+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1906+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1921+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1849+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1951+5G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2092+5G>C
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1993+5G>C
num of homozygotes: 1
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

7-73478032-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478032
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478032
    reference: chr 7
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1921+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2197+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1993+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1993+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1963+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1936+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2092+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1906+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1750+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2008+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1585+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1849+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2011+7G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1951+7G>C
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1993+7G>C
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

7-73478033-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478033
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478033
    reference: chr 7
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2197+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2092+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1921+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2008+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1906+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1951+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1993+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1585+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1993+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1936+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2011+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1963+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1849+8T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1750+8T>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1993+8T>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

7-73478053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478053
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478053
    reference: chr 7
allele count: 3
allele frequency: 2.47390035129385e-5
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1906+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1585+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2092+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1921+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2197+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1963+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2008+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1936+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1750+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2011+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1993+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1849+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1993+28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1951+28G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

7-73478060-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478060
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478060
    reference: chr 7
allele count: 2
allele frequency: 1.651118632873772e-5
allele num: 121130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1750+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2011+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1993+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1906+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1921+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1849+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1585+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2008+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1951+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2197+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1993+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1963+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2092+35G>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1936+35G>C
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

7-73478065-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478065
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478065
    reference: chr 7
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2092+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1993+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1963+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2197+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1585+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1936+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1906+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1951+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1849+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1993+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2011+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1921+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2008+40T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1750+40T>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

7-73478068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478068
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478068
    reference: chr 7
allele count: 7
allele frequency: 5.803926771026797e-5
allele num: 120608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1993+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1750+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1849+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1585+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1906+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2197+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1993+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1921+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2011+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2008+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2092+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1951+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1936+43A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1963+43A>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7685
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-73478071-C-CGAGACAGAGATGGAGACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478071
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478089
    reference: chr 7
allele count: 1
allele frequency: 8.339170752860335e-6
allele num: 119916
alternate allele: CGAGACAGAGATGGAGACA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

7-73478071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73478071
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73478071
    reference: chr 7
allele count: 1
allele frequency: 8.339170752860335e-6
allele num: 119916
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1993+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1906+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1936+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1921+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1585+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2197+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1951+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1750+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2011+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1993+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1849+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2092+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1963+46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2008+46C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

7-73479981-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73479981
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73479981
    reference: chr 7
allele count: 179
allele frequency: 1.667474009762641e-3
allele num: 107348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1907-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2093-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1922-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1994-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1952-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1850-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1751-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2012-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1586-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1937-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1964-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2198-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1994-43T>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2009-43T>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10007
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10898
  bin: 2.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 11905
  bin: 2.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

7-73479986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73479986
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73479986
    reference: chr 7
allele count: 4
allele frequency: 3.306386285109689e-5
allele num: 120978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2198-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2012-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1964-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2093-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1850-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1907-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1922-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2009-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1751-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1952-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1586-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1937-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1994-38T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1994-38T>C
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-73479988-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73479988
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73479988
    reference: chr 7
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1751-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2012-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1850-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1922-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2198-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1937-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1907-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1952-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1586-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2093-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1994-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1964-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2009-36G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1994-36G>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

7-73479995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73479995
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73479995
    reference: chr 7
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2009-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2093-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1964-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1937-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2012-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1922-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1586-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1907-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1994-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1952-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1751-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2198-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1850-29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1994-29C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-73480002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73480002
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73480002
    reference: chr 7
allele count: 3
allele frequency: 2.476309967973058e-5
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2012-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1994-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1937-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1994-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1922-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2093-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1907-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1850-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1964-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2198-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1586-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2009-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1952-22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1751-22G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-73480005-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73480005
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73480005
    reference: chr 7
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1922-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1994-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1751-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1850-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1937-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2198-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2093-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1907-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2012-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1964-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1586-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2009-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1952-19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1994-19A>C
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

7-73480005-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73480005
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73480005
    reference: chr 7
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.2198-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.2012-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.2093-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.1922-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.1586-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.2009-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.1994-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.1907-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.1952-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.1751-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.1937-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.1850-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.1964-19A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.1994-19A>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1935
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 580
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3382
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30598
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.262945188178833e-4
allele num: 7918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7168
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.07e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -2.467e0

MQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

FS
type: SiteQuality
SIO_000300: 1.572e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.007e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

DP
type: SiteQuality
SIO_000300: 3.72038e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.51e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeDepth
all individuals: 46
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 580
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2537
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30940
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1886
num of homozygotes: 0

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

East Asian
type: Population
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allele frequency: 2.941176470588235e-3
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

South Asian
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 5.122950819672131e-4
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num of homozygotes: 0

Latino
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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MQ
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.410039481105471e-4
allele num: 7092
num of homozygotes: 0

African
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num of homozygotes: 0

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

African
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allele frequency: 5.175983436853002e-4
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East Asian
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allele frequency: 3.311258278145695e-3
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.129955947136564e-4
allele num: 7264
num of homozygotes: 0

European (Finnish)
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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African
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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Other
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 6784
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Latino
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African
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Other
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South Asian
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East Asian
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European (Finnish)
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DP
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SIO_000300: 3.51749e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.382e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.013e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.42e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
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SIO_000300: 1.28e0

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.486325802615933e-4
allele num: 6728
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.252e-1

QD
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -3.1e-2

FS
type: SiteQuality
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DP
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ReadPosRankSum
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SIO_000300: 3.22e-1

InbreedingCoeff
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SIO_000300: -7.480000000000001e-2

BaseQRankSum
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SIO_000300: 4.06e-1

MQRankSum
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

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

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

East 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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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.389999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

MQ
type: SiteQuality
SIO_000300: 5.604e1

ClippingRankSum
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SIO_000300: -7.36e-1

BaseQRankSum
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SIO_000300: -7.36e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.555e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 3.49369e5

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6728
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -2.983e0

ClippingRankSum
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DP
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ReadPosRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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African
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num of homozygotes: 0

Latino
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DP
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 3
allele frequency: 3.806140573458513e-4
allele num: 7882
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

European (Finnish)
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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
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num of homozygotes: 0

South Asian
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allele num: 7884
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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Other
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 625
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

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

African
type: Population
allele count: 10
allele frequency: 7.41839762611276e-3
allele num: 1348
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.69e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.29e-1

MQRankSum
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DP
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SIO_000300: 3.52026e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 6.7e0

FS
type: SiteQuality
SIO_000300: 2.924e0

MQ
type: SiteQuality
SIO_000300: 5.143e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 532
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
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SIO_000300: 3.54533e5

BaseQRankSum
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SIO_000300: 7.27e-1

ClippingRankSum
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SIO_000300: 7.27e-1

InbreedingCoeff
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SIO_000300: -7.630000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 7.27e-1

QD
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SIO_000300: 1.221e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1563
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.260398285858331e-4
allele num: 7934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.944e0

DP
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SIO_000300: 3.62268e5

BaseQRankSum
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SIO_000300: -2.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.37e-2

FS
type: SiteQuality
SIO_000300: 9.59e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 9.75e1
variant carriers: 8

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 1.006036217303823e-3
allele num: 7952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.364e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.26e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.314e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 3.64969e5

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 401
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 926
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
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SIO_000300: 7.36e-1

FS
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ClippingRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -7.08e-2

QD
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SIO_000300: 9.34e0

BaseQRankSum
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SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 3.71442e5

MQ
type: SiteQuality
SIO_000300: 5.662e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-4
allele num: 6666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

VQSLOD
type: SiteQuality
SIO_000300: -7.35e-2

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 3.76692e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 6

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6666
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 7.02028081123245e-3
allele num: 1282
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 5.617977528089887e-3
allele num: 178
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

DP
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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SIO_000300: 5.118e0

MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 6814
num of homozygotes: 0

African
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Other
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7084
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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East Asian
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allele num: 502
num of homozygotes: 0

Other
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num of homozygotes: 0

MQRankSum
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SIO_000300: -9.25e-1

FS
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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MQ
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 2.01e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

DP
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MQRankSum
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FS
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 6.934812760055479e-4
allele num: 8652
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

African
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allele frequency: 8.650519031141869e-4
allele num: 10404
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Latino
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allele frequency: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

Other
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allele frequency: 5.506607929515419e-3
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num of homozygotes: 0

European (Finnish)
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allele count: 17
allele frequency: 2.571082879612825e-3
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.768426100770314e-3
allele num: 66726
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South Asian
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InbreedingCoeff
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DP
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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FS
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QD
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GenotypeDepth
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variant carriers: 4

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 152
allele frequency: 1.313061506565307e-2
allele num: 11576
num of homozygotes: 1

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994485073732166e-5
allele num: 66728
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

DP
type: SiteQuality
SIO_000300: 3.013399e6

GenotypeDepth
all individuals: 6544
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
all individuals: 839
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 4158
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variant carriers: 1

GenotypeDepth
all individuals: 2107
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4455
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27215
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 6610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.029e0

QD
type: SiteQuality
SIO_000300: 1.444e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.379e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

DP
type: SiteQuality
SIO_000300: 3.002057e6

GenotypeDepth
all individuals: 2107
bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 3110
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GenotypeQuality
all individuals: 4010
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 9975
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2418
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27215
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3595
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4455
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 3.001997e6

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.252e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.129e0

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeDepth
all individuals: 1198
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6260
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4159
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10125
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variant carriers: 0

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

GenotypeDepth
all individuals: 3110
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2107
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variant carriers: 0

GenotypeDepth
all individuals: 774
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variant carriers: 0

GenotypeDepth
all individuals: 7811
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 27211
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9977
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4451
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4009
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 3.002272e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.894e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

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

GenotypeDepth
all individuals: 4166
bin: 9.75e1
variant carriers: 9

GenotypeDepth
all individuals: 6548
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 965
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 10

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991458114790949e-5
allele num: 66730
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.164e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 3.003361e6

FS
type: SiteQuality
SIO_000300: 1.744e0

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

GenotypeDepth
all individuals: 6552
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.002397e6

MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.64e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 1
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African
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East Asian
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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African
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Latino
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
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VQSLOD
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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Latino
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African
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European (Finnish)
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East Asian
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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GenotypeDepth
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VQSLOD
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FS
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DP
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African
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -4.309e0

ClippingRankSum
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VQSLOD
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QD
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FS
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SIO_000300: 5.357e0

MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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SIO_000300: 3.001495e6

BaseQRankSum
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SIO_000300: 6.3e-1

GenotypeDepth
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.049034887903129e-4
allele num: 66728
num of homozygotes: 0

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

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

South Asian
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allele num: 16512
num of homozygotes: 0

East Asian
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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QD
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FS
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VQSLOD
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SIO_000300: 3.2e-2

MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 6.3e-1

InbreedingCoeff
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SIO_000300: 2.0e-4

MQ
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SIO_000300: 5.434e1

VQSLOD
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SIO_000300: 3.2e-2

DP
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SIO_000300: 3.001495e6

FS
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SIO_000300: 5.357e0

MQRankSum
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SIO_000300: -4.309e0

ReadPosRankSum
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SIO_000300: 1.31e-1

ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

European (Non-Finnish)
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allele count: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
type: SiteQuality
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DP
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MQ
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QD
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ClippingRankSum
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SIO_000300: -5.98e-1

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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Latino
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Other
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African
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European (Non-Finnish)
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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VQSLOD
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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VQSLOD
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele num: 66710
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European (Finnish)
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African
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Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
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African
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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Latino
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VQSLOD
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DP
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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Latino
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East Asian
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European (Finnish)
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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Other
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MQ
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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Other
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Latino
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South Asian
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 3.004175804368072e-5
allele num: 66574
num of homozygotes: 0

South Asian
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Other
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African
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European (Finnish)
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East Asian
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Latino
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10350
num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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DP
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MQ
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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Latino
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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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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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FS
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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Other
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European (Finnish)
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allele frequency: 5.584192439862543e-3
allele num: 4656
num of homozygotes: 0

European (Non-Finnish)
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allele count: 81
allele frequency: 1.347708894878706e-3
allele num: 60102
num of homozygotes: 0

South Asian
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allele frequency: 1.898562516951451e-3
allele num: 14748
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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MQ
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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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: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

African
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allele frequency: 3.865481252415926e-4
allele num: 10348
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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FS
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SIO_000300: 9.786e0

ClippingRankSum
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SIO_000300: 3.46e-1

MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
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SIO_000300: 2.28e0

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 2.221157e6

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.832e0

MQ
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SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.246e0

QD
type: SiteQuality
SIO_000300: 1.265e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.5142e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQ
type: SiteQuality
SIO_000300: 5.798e1

DP
type: SiteQuality
SIO_000300: 2.232564e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
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allele frequency: 8.658008658008658e-5
allele num: 11550
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 num: 16498
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Other
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European (Non-Finnish)
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allele num: 66594
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MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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MQ
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501005673801447e-5
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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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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Latino
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South Asian
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QD
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MQ
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FS
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DP
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VQSLOD
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