10-13158284-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158284
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158284
    reference: chr 10
allele count: 2
allele frequency: 1.656808655168415e-5
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.17G>T
  hgvsp: ENST00000424614.1:c.17G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.570G>T
  hgvsp: ENST00000378757.2:c.570G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.570G>T
  hgvsp: ENST00000378752.3:c.570G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.570G>T
  hgvsp: ENST00000378748.3:c.570G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000414747
  ensembl transcript: ENST00000430081
  gene symbol: OPTN
  hgvsc: ENST00000430081.1:c.399G>T
  hgvsp: ENST00000430081.1:c.399G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.518G>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.570G>T
  hgvsp: ENST00000378747.3:c.570G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.570G>T
  hgvsp: ENST00000378764.2:c.570G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.570G>T
  hgvsp: ENST00000263036.5:c.570G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.167G>T
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly190Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

10-13158287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158287
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158287
    reference: chr 10
allele count: 4
allele frequency: 3.31394674487581e-5
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.573A>G
  hgvsp: ENST00000378748.3:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000414747
  ensembl transcript: ENST00000430081
  gene symbol: OPTN
  hgvsc: ENST00000430081.1:c.402A>G
  hgvsp: ENST00000430081.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.573A>G
  hgvsp: ENST00000263036.5:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.20A>G
  hgvsp: ENST00000424614.1:c.20A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.573A>G
  hgvsp: ENST00000378747.3:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.170A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.573A>G
  hgvsp: ENST00000378764.2:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.573A>G
  hgvsp: ENST00000378752.3:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.521A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.573A>G
  hgvsp: ENST00000378757.2:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser191Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

10-13158288-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158288
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158288
    reference: chr 10
allele count: 3
allele frequency: 2.485707183693761e-5
allele num: 120690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.574G>C
  hgvsp: ENSP00000368021.3:p.Val192Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.574G>C
  hgvsp: ENSP00000368027.3:p.Val192Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.522G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.574G>C
  hgvsp: ENSP00000368032.2:p.Val192Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.574G>C
  hgvsp: ENSP00000368022.3:p.Val192Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.574G>C
  hgvsp: ENSP00000368040.1:p.Val192Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.171G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000414747
  ensembl transcript: ENST00000430081
  gene symbol: OPTN
  hgvsc: ENST00000430081.1:c.403G>C
  hgvsp: ENSP00000414747.1:p.Val135Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.574G>C
  hgvsp: ENSP00000263036.3:p.Val192Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.21G>C
  hgvsp: ENSP00000400356.1:p.Val8Leu
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val192Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/10-13158292-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158292
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158292
    reference: chr 10
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.578A>C
  hgvsp: ENSP00000368021.3:p.Lys193Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000414747
  ensembl transcript: ENST00000430081
  gene symbol: OPTN
  hgvsc: ENST00000430081.1:c.407A>C
  hgvsp: ENSP00000414747.1:p.Lys136Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.578A>C
  hgvsp: ENSP00000263036.3:p.Lys193Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.578A>C
  hgvsp: ENSP00000368040.1:p.Lys193Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.578A>C
  hgvsp: ENSP00000368027.3:p.Lys193Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.526A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.578A>C
  hgvsp: ENSP00000368032.2:p.Lys193Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.578A>C
  hgvsp: ENSP00000368022.3:p.Lys193Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.25A>C
  hgvsp: ENSP00000400356.1:p.Lys9Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.175A>C
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys193Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

10-13158296-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158296
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158296
    reference: chr 10
allele count: 6
allele frequency: 4.973392350922564e-5
allele num: 120642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.179A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.582A>G
  hgvsp: ENST00000378757.2:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.582A>G
  hgvsp: ENST00000378747.3:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.582A>G
  hgvsp: ENST00000378748.3:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.582A>G
  hgvsp: ENST00000378764.2:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.582A>G
  hgvsp: ENST00000378752.3:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.582A>G
  hgvsp: ENST00000263036.5:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000414747
  ensembl transcript: ENST00000430081
  gene symbol: OPTN
  hgvsc: ENST00000430081.1:c.411A>G
  hgvsp: ENST00000430081.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.29A>G
  hgvsp: ENST00000424614.1:c.29A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.530A>G
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu194Glu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/10-13158303-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158303
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158303
    reference: chr 10
allele count: 2
allele frequency: 1.658484808279156e-5
allele num: 120592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.589C>A
  hgvsp: ENSP00000368021.3:p.His197Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000414747
  ensembl transcript: ENST00000430081
  gene symbol: OPTN
  hgvsc: ENST00000430081.1:c.418C>A
  hgvsp: ENSP00000414747.1:p.His140Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.186C>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.589C>A
  hgvsp: ENSP00000263036.3:p.His197Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.36C>A
  hgvsp: ENSP00000400356.1:p.His13Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.589C>A
  hgvsp: ENSP00000368040.1:p.His197Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.589C>A
  hgvsp: ENSP00000368032.2:p.His197Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.589C>A
  hgvsp: ENSP00000368022.3:p.His197Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.589C>A
  hgvsp: ENSP00000368027.3:p.His197Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.537C>A
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His197Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

10-13158306-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158306
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158306
    reference: chr 10
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.592A>G
  hgvsp: ENSP00000368021.3:p.Ser198Gly
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000414747
  ensembl transcript: ENST00000430081
  gene symbol: OPTN
  hgvsc: ENST00000430081.1:c.421A>G
  hgvsp: ENSP00000414747.1:p.Ser141Gly
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.592A>G
  hgvsp: ENSP00000368032.2:p.Ser198Gly
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.540A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.39A>G
  hgvsp: ENSP00000400356.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.592A>G
  hgvsp: ENSP00000368040.1:p.Ser198Gly
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.592A>G
  hgvsp: ENSP00000263036.3:p.Ser198Gly
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.189A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.592A>G
  hgvsp: ENSP00000368022.3:p.Ser198Gly
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.592A>G
  hgvsp: ENSP00000368027.3:p.Ser198Gly
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8047
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser198Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

10-13158311-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158311
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158311
    reference: chr 10
allele count: 10
allele frequency: 8.297240337863627e-5
allele num: 120522
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.597T>C
  hgvsp: ENST00000378748.3:c.597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.597T>C
  hgvsp: ENST00000378757.2:c.597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.597T>C
  hgvsp: ENST00000378764.2:c.597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.194T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000414747
  ensembl transcript: ENST00000430081
  gene symbol: OPTN
  hgvsc: ENST00000430081.1:c.426T>C
  hgvsp: ENST00000430081.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.597T>C
  hgvsp: ENST00000378752.3:c.597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.545T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.597T>C
  hgvsp: ENST00000378747.3:c.597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.44T>C
  hgvsp: ENST00000424614.1:c.44T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.597T>C
  hgvsp: ENST00000263036.5:c.597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro199Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/10-13158318-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158318
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158318
    reference: chr 10
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.604A>C
  hgvsp: ENSP00000263036.3:p.Thr202Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.604A>C
  hgvsp: ENSP00000368027.3:p.Thr202Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000414747
  ensembl transcript: ENST00000430081
  gene symbol: OPTN
  hgvsc: ENST00000430081.1:c.433A>C
  hgvsp: ENSP00000414747.1:p.Thr145Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.604A>C
  hgvsp: ENSP00000368032.2:p.Thr202Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.604A>C
  hgvsp: ENSP00000368022.3:p.Thr202Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.552A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.604A>C
  hgvsp: ENSP00000368021.3:p.Thr202Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.51A>C
  hgvsp: ENSP00000400356.1:p.Thr18Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.201A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.604A>C
  hgvsp: ENSP00000368040.1:p.Thr202Pro
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr202Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

10-13158320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158320
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158320
    reference: chr 10
allele count: 20
allele frequency: 1.660770929865644e-4
allele num: 120426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.606G>A
  hgvsp: ENST00000263036.5:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.606G>A
  hgvsp: ENST00000378752.3:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.53G>A
  hgvsp: ENST00000424614.1:c.53G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.606G>A
  hgvsp: ENST00000378757.2:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.606G>A
  hgvsp: ENST00000378764.2:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.606G>A
  hgvsp: ENST00000378747.3:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000414747
  ensembl transcript: ENST00000430081
  gene symbol: OPTN
  hgvsc: ENST00000430081.1:c.435G>A
  hgvsp: ENST00000430081.1:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.203G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.606G>A
  hgvsp: ENST00000378748.3:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.554G>A
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr202Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

10-13158333-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158333
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158333
    reference: chr 10
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.619A>T
  hgvsp: ENSP00000368021.3:p.Thr207Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.216A>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.619A>T
  hgvsp: ENSP00000368027.3:p.Thr207Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.619A>T
  hgvsp: ENSP00000368022.3:p.Thr207Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.619A>T
  hgvsp: ENSP00000263036.3:p.Thr207Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.619A>T
  hgvsp: ENSP00000368032.2:p.Thr207Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.567A>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.66A>T
  hgvsp: ENSP00000400356.1:p.Thr23Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.619A>T
  hgvsp: ENSP00000368040.1:p.Thr207Ser
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17575
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19155
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr207Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

10-13158341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158341
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158341
    reference: chr 10
allele count: 2
allele frequency: 1.664170411050091e-5
allele num: 120180
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+1G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+1G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+1G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+1G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+1G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+1G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+1G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+1G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.224G>A
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17336
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: c.626+1G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

10-13158344-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158344
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158343
    reference: chr 10
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+5delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+5delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+5delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+5delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.228delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+5delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+5delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+5delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+5delG
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.25e1
  variant carriers: 0
hgvs: c.626+5delG
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: TG
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

10-13158349-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158349
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158348
    reference: chr 10
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+11delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+11delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+11delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+11delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+11delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+11delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.234delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+11delG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+11delG
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AG
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

10-13158356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158356
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158356
    reference: chr 10
allele count: 1
allele frequency: 8.341396683460679e-6
allele num: 119884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.239C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+16C>T
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

10-13158358-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158358
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158358
    reference: chr 10
allele count: 7
allele frequency: 5.84190145546802e-5
allele num: 119824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+18C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+18C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+18C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+18C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+18C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+18C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.241C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+18C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+18C>G
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11293
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

10-13158358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158358
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158358
    reference: chr 10
allele count: 2
allele frequency: 1.669114701562291e-5
allele num: 119824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+18C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+18C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+18C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+18C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+18C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+18C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+18C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.241C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+18C>T
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11293
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17437
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

10-13158359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158359
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158359
    reference: chr 10
allele count: 1
allele frequency: 8.350870160670742e-6
allele num: 119748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+19G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+19G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+19G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+19G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+19G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.242G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+19G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+19G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+19G>A
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

10-13158364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158364
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158364
    reference: chr 10
allele count: 3029
allele frequency: 2.530746607847069e-2
allele num: 119688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+24G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+24G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+24G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+24G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+24G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+24G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+24G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+24G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.247G>A
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15879
  bin: 2.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 3.75e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 3.25e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 2.25e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.25e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 9.75e1
  variant carriers: 572
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 5.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 16906
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.25e1
  variant carriers: 4
num of homozygotes: 96
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

10-13158369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158369
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158369
    reference: chr 10
allele count: 1
allele frequency: 8.363022061652199e-6
allele num: 119574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.252G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+29G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+29G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+29G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+29G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+29G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+29G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+29G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+29G>A
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7080
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

10-13158377-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158377
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158377
    reference: chr 10
allele count: 7
allele frequency: 5.871005619391093e-5
allele num: 119230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+37G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+37G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+37G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+37G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.260G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+37G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+37G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+37G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+37G>C
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

10-13158389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158389
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158389
    reference: chr 10
allele count: 4
allele frequency: 3.37325012649688e-5
allele num: 118580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.272C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+49C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+49C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+49C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+49C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+49C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+49C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+49C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+49C>T
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9779
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17197
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

10-13158390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13158390
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13158390
    reference: chr 10
allele count: 1
allele frequency: 8.441383036196651e-6
allele num: 118464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.626+50G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000486862
  gene symbol: OPTN
  hgvsc: ENST00000486862.1:n.273G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.626+50G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.574+50G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.73+50G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.626+50G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.626+50G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.626+50G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.626+50G>A
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17195
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/10-13160847-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160847
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160847
    reference: chr 10
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.575-41A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.627-59A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.627-41A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.74-41A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.627-41A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.627-59A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.627-41A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.627-41A>C
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

10-13160854-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160854
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160853
    reference: chr 10
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.74-33delT
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.627-33delT
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.575-33delT
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.627-33delT
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.627-33delT
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.627-51delT
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.627-51delT
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.627-33delT
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: CT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

10-13160855-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160855
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160855
    reference: chr 10
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.627-33T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.627-33T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.627-33T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.627-33T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.74-33T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.627-51T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.627-51T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.575-33T>C
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

10-13160872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160872
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160872
    reference: chr 10
allele count: 6
allele frequency: 4.970343616422015e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.627-16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.627-34C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.627-34C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.627-16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.627-16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.74-16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.627-16C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.575-16C>T
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

10-13160877-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160877
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160877
    reference: chr 10
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.627-11A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.627-11A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.627-11A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.627-29A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.627-11A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.575-11A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.74-11A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.627-29A>G
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

10-13160878-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160878
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160878
    reference: chr 10
allele count: 341
allele frequency: 2.819300218268404e-3
allele num: 120952
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.627-10T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.74-10T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.627-10T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.627-10T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.575-10T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.627-28T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.627-10T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.627-28T>C
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15691
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 29095
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 4
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

10-13160881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160881
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160881
    reference: chr 10
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.627-25T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.627-25T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.627-7T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.627-7T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.627-7T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.575-7T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.74-7T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.627-7T>C
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: c.627-7T>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

10-13160882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160882
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160882
    reference: chr 10
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.627-6G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.627-6G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.575-6G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.627-24G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.627-6G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.74-6G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.627-6G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.627-24G>A
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.627-6G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

10-13160894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160894
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160894
    reference: chr 10
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.633G>A
  hgvsp: ENST00000263036.5:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.80G>A
  hgvsp: ENST00000424614.1:c.80G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.633G>A
  hgvsp: ENST00000378757.2:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.633G>A
  hgvsp: ENST00000378747.3:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.633G>A
  hgvsp: ENST00000378748.3:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.627-12G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.581G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.627-12G>A
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu211Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

10-13160905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160905
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160905
    reference: chr 10
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.644G>A
  hgvsp: ENSP00000368022.3:p.Arg215Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.627-1G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.644G>A
  hgvsp: ENSP00000263036.3:p.Arg215Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.644G>A
  hgvsp: ENSP00000368021.3:p.Arg215Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.627-1G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.644G>A
  hgvsp: ENSP00000368032.2:p.Arg215Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.592G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.91G>A
  hgvsp: ENSP00000400356.1:p.Arg31Lys
  variant of: http://identifiers.org/hgnc/17142
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
hgvs: c.627-1G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/10-13160909-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160909
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160909
    reference: chr 10
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.648C>A
  hgvsp: ENSP00000263036.3:p.Ser216Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.648C>A
  hgvsp: ENSP00000368021.3:p.Ser216Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.648C>A
  hgvsp: ENSP00000368022.3:p.Ser216Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.630C>A
  hgvsp: ENSP00000368027.3:p.Ser210Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.95C>A
  hgvsp: ENSP00000400356.1:p.Ser32Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.648C>A
  hgvsp: ENSP00000368032.2:p.Ser216Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.596C>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.630C>A
  hgvsp: ENSP00000368040.1:p.Ser210Arg
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser216Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

10-13160911-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160911
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160911
    reference: chr 10
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.650G>C
  hgvsp: ENSP00000368032.2:p.Arg217Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.632G>C
  hgvsp: ENSP00000368040.1:p.Arg211Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.97G>C
  hgvsp: ENSP00000400356.1:p.Arg33Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.650G>C
  hgvsp: ENSP00000368021.3:p.Arg217Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.632G>C
  hgvsp: ENSP00000368027.3:p.Arg211Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.598G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.650G>C
  hgvsp: ENSP00000368022.3:p.Arg217Thr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.650G>C
  hgvsp: ENSP00000263036.3:p.Arg217Thr
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg217Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

10-13160919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160919
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160919
    reference: chr 10
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.105G>A
  hgvsp: ENSP00000400356.1:p.Asp36Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.658G>A
  hgvsp: ENSP00000263036.3:p.Asp220Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.658G>A
  hgvsp: ENSP00000368032.2:p.Asp220Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.640G>A
  hgvsp: ENSP00000368040.1:p.Asp214Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.640G>A
  hgvsp: ENSP00000368027.3:p.Asp214Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.658G>A
  hgvsp: ENSP00000368022.3:p.Asp220Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.606G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.658G>A
  hgvsp: ENSP00000368021.3:p.Asp220Asn
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp220Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

10-13160923-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160923
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160923
    reference: chr 10
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.644G>C
  hgvsp: ENSP00000368027.3:p.Gly215Ala
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.662G>C
  hgvsp: ENSP00000368022.3:p.Gly221Ala
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.610G>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.644G>C
  hgvsp: ENSP00000368040.1:p.Gly215Ala
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.109G>C
  hgvsp: ENSP00000400356.1:p.Gly37Ala
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.662G>C
  hgvsp: ENSP00000263036.3:p.Gly221Ala
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.662G>C
  hgvsp: ENSP00000368032.2:p.Gly221Ala
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.662G>C
  hgvsp: ENSP00000368021.3:p.Gly221Ala
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly221Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

10-13160924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160924
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160924
    reference: chr 10
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.663G>A
  hgvsp: ENST00000263036.5:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.663G>A
  hgvsp: ENST00000378757.2:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.645G>A
  hgvsp: ENST00000378764.2:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.663G>A
  hgvsp: ENST00000378748.3:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.645G>A
  hgvsp: ENST00000378752.3:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.110G>A
  hgvsp: ENST00000424614.1:c.110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.611G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.663G>A
  hgvsp: ENST00000378747.3:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly221Gly
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

10-13160930-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160930
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160930
    reference: chr 10
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.651G>T
  hgvsp: ENSP00000368027.3:p.Lys217Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.669G>T
  hgvsp: ENSP00000368032.2:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.617G>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.651G>T
  hgvsp: ENSP00000368040.1:p.Lys217Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.669G>T
  hgvsp: ENSP00000263036.3:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.669G>T
  hgvsp: ENSP00000368022.3:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.669G>T
  hgvsp: ENSP00000368021.3:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.116G>T
  hgvsp: ENSP00000400356.1:p.Lys39Asn
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys223Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-13160933-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160933
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160933
    reference: chr 10
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.672T>A
  hgvsp: ENSP00000368022.3:p.Asn224Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.654T>A
  hgvsp: ENSP00000368040.1:p.Asn218Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.672T>A
  hgvsp: ENSP00000263036.3:p.Asn224Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.654T>A
  hgvsp: ENSP00000368027.3:p.Asn218Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.672T>A
  hgvsp: ENSP00000368032.2:p.Asn224Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.620T>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.119T>A
  hgvsp: ENSP00000400356.1:p.Asn40Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.672T>A
  hgvsp: ENSP00000368021.3:p.Asn224Lys
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn224Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

10-13160936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160936
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160936
    reference: chr 10
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.675C>T
  hgvsp: ENST00000263036.5:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.122C>T
  hgvsp: ENST00000424614.1:c.122C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.675C>T
  hgvsp: ENST00000378757.2:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.657C>T
  hgvsp: ENST00000378764.2:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.675C>T
  hgvsp: ENST00000378748.3:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.675C>T
  hgvsp: ENST00000378747.3:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.657C>T
  hgvsp: ENST00000378752.3:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.623C>T
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr225Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

10-13160939-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160939
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160939
    reference: chr 10
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.125C>G
  hgvsp: ENSP00000400356.1:p.Phe42Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.660C>G
  hgvsp: ENSP00000368027.3:p.Phe220Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.626C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.678C>G
  hgvsp: ENSP00000368021.3:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.678C>G
  hgvsp: ENSP00000368022.3:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.660C>G
  hgvsp: ENSP00000368040.1:p.Phe220Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.678C>G
  hgvsp: ENSP00000263036.3:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.678C>G
  hgvsp: ENSP00000368032.2:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe226Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

10-13160939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160939
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160939
    reference: chr 10
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.660C>T
  hgvsp: ENST00000378752.3:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.678C>T
  hgvsp: ENST00000378748.3:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.660C>T
  hgvsp: ENST00000378764.2:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.678C>T
  hgvsp: ENST00000378757.2:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.125C>T
  hgvsp: ENST00000424614.1:c.125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.678C>T
  hgvsp: ENST00000378747.3:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.626C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.678C>T
  hgvsp: ENST00000263036.5:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe226Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS

10-13160940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160940
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160940
    reference: chr 10
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.679G>A
  hgvsp: ENSP00000368021.3:p.Glu227Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.679G>A
  hgvsp: ENSP00000368032.2:p.Glu227Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.679G>A
  hgvsp: ENSP00000263036.3:p.Glu227Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.661G>A
  hgvsp: ENSP00000368027.3:p.Glu221Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.679G>A
  hgvsp: ENSP00000368022.3:p.Glu227Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.627G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.661G>A
  hgvsp: ENSP00000368040.1:p.Glu221Lys
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.126G>A
  hgvsp: ENSP00000400356.1:p.Glu43Lys
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu227Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

10-13160943-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160943
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160943
    reference: chr 10
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.129C>T
  hgvsp: ENSP00000400356.1:p.His44Tyr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.682C>T
  hgvsp: ENSP00000368022.3:p.His228Tyr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.682C>T
  hgvsp: ENSP00000263036.3:p.His228Tyr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.682C>T
  hgvsp: ENSP00000368032.2:p.His228Tyr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.664C>T
  hgvsp: ENSP00000368027.3:p.His222Tyr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.664C>T
  hgvsp: ENSP00000368040.1:p.His222Tyr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.682C>T
  hgvsp: ENSP00000368021.3:p.His228Tyr
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.630C>T
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His228Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/10-13160944-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160944
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160944
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.665A>C
  hgvsp: ENSP00000368027.3:p.His222Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.683A>C
  hgvsp: ENSP00000368032.2:p.His228Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.683A>C
  hgvsp: ENSP00000368022.3:p.His228Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.683A>C
  hgvsp: ENSP00000368021.3:p.His228Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.665A>C
  hgvsp: ENSP00000368040.1:p.His222Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.683A>C
  hgvsp: ENSP00000263036.3:p.His228Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.631A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.130A>C
  hgvsp: ENSP00000400356.1:p.His44Pro
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His228Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

10-13160960-G-GTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160960
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160963
    reference: chr 10
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: GTTA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.699_700insTTA
  hgvsp: ENSP00000263036.3:p.Val233_Ser234insLeu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.647_648insTTA
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.699_700insTTA
  hgvsp: ENSP00000368022.3:p.Val233_Ser234insLeu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.681_682insTTA
  hgvsp: ENSP00000368040.1:p.Val227_Ser228insLeu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.146_147insTTA
  hgvsp: ENSP00000400356.1:p.Val49_Ser50insLeu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.681_682insTTA
  hgvsp: ENSP00000368027.3:p.Val227_Ser228insLeu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.699_700insTTA
  hgvsp: ENSP00000368021.3:p.Val233_Ser234insLeu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.699_700insTTA
  hgvsp: ENSP00000368032.2:p.Val233_Ser234insLeu
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 15784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val233_Ser234insLeu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

10-13160961-AGCCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160961
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160956
    reference: chr 10
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.701_705delGCCAG
  hgvsp: ENSP00000368032.2:p.Ser234ThrfsTer16
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.148_152delGCCAG
  hgvsp: ENSP00000400356.1:p.Ser50ThrfsTer16
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.701_705delGCCAG
  hgvsp: ENSP00000368022.3:p.Ser234ThrfsTer16
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.701_705delGCCAG
  hgvsp: ENSP00000263036.3:p.Ser234ThrfsTer16
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.649_653delGCCAG
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.701_705delGCCAG
  hgvsp: ENSP00000368021.3:p.Ser234ThrfsTer16
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.683_687delGCCAG
  hgvsp: ENSP00000368040.1:p.Ser228ThrfsTer16
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.683_687delGCCAG
  hgvsp: ENSP00000368027.3:p.Ser228ThrfsTer16
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser234ThrfsTer16
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: AGCCAG
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

10-13160962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160962
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160962
    reference: chr 10
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.701G>A
  hgvsp: ENSP00000368021.3:p.Ser234Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.701G>A
  hgvsp: ENSP00000368022.3:p.Ser234Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.701G>A
  hgvsp: ENSP00000368032.2:p.Ser234Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.683G>A
  hgvsp: ENSP00000368040.1:p.Ser228Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.148G>A
  hgvsp: ENSP00000400356.1:p.Ser50Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.683G>A
  hgvsp: ENSP00000368027.3:p.Ser228Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.701G>A
  hgvsp: ENSP00000263036.3:p.Ser234Asn
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.649G>A
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser234Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

10-13160968-T-TTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160968
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160970
    reference: chr 10
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: TTC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.689_690insTC
  hgvsp: ENSP00000368040.1:p.Leu231ProfsTer5
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.707_708insTC
  hgvsp: ENSP00000368021.3:p.Leu237ProfsTer5
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.707_708insTC
  hgvsp: ENSP00000368032.2:p.Leu237ProfsTer5
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.154_155insTC
  hgvsp: ENSP00000400356.1:p.Leu53ProfsTer5
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.707_708insTC
  hgvsp: ENSP00000263036.3:p.Leu237ProfsTer5
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.689_690insTC
  hgvsp: ENSP00000368027.3:p.Leu231ProfsTer5
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.707_708insTC
  hgvsp: ENSP00000368022.3:p.Leu237ProfsTer5
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.655_656insTC
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu237ProfsTer5
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

10-13160971-T-TTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160971
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160973
    reference: chr 10
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: TTA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.710_711insTA
  hgvsp: ENSP00000368022.3:p.Leu238SerfsTer4
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.710_711insTA
  hgvsp: ENSP00000368032.2:p.Leu238SerfsTer4
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.157_158insTA
  hgvsp: ENSP00000400356.1:p.Leu54SerfsTer4
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.692_693insTA
  hgvsp: ENSP00000368027.3:p.Leu232SerfsTer4
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.658_659insTA
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.710_711insTA
  hgvsp: ENSP00000263036.3:p.Leu238SerfsTer4
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.710_711insTA
  hgvsp: ENSP00000368021.3:p.Leu238SerfsTer4
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.692_693insTA
  hgvsp: ENSP00000368040.1:p.Leu232SerfsTer4
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 15782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu238SerfsTer4
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

10-13160979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160979
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160979
    reference: chr 10
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123240
  ensembl transcript: ENST00000482140
  gene symbol: OPTN
  hgvsc: ENST00000482140.1:n.666C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.718C>T
  hgvsp: ENST00000378757.2:c.718C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.700C>T
  hgvsp: ENST00000378764.2:c.700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.718C>T
  hgvsp: ENST00000263036.5:c.718C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.700C>T
  hgvsp: ENST00000378752.3:c.700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.718C>T
  hgvsp: ENST00000378747.3:c.718C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.718C>T
  hgvsp: ENST00000378748.3:c.718C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.165C>T
  hgvsp: ENST00000424614.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu240Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

10-13160988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160988
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160988
    reference: chr 10
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.727G>A
  hgvsp: ENSP00000368022.3:p.Gly243Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.174G>A
  hgvsp: ENSP00000400356.1:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.727G>A
  hgvsp: ENSP00000368032.2:p.Gly243Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.727G>A
  hgvsp: ENSP00000263036.3:p.Gly243Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.709G>A
  hgvsp: ENSP00000368040.1:p.Gly237Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.709G>A
  hgvsp: ENSP00000368027.3:p.Gly237Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.727G>A
  hgvsp: ENSP00000368021.3:p.Gly243Arg
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly243Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

10-13160999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13160999
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13160999
    reference: chr 10
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.738G>A
  hgvsp: ENST00000378748.3:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.720G>A
  hgvsp: ENST00000378752.3:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.738G>A
  hgvsp: ENST00000378757.2:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.738G>A
  hgvsp: ENST00000378747.3:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.738G>A
  hgvsp: ENST00000263036.5:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.720G>A
  hgvsp: ENST00000378764.2:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.185G>A
  hgvsp: ENST00000424614.1:c.185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys246Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

10-13161010-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161010
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161010
    reference: chr 10
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.749T>C
  hgvsp: ENSP00000368032.2:p.Leu250Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.196T>C
  hgvsp: ENSP00000400356.1:p.Leu66Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.749T>C
  hgvsp: ENSP00000263036.3:p.Leu250Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.749T>C
  hgvsp: ENSP00000368022.3:p.Leu250Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.731T>C
  hgvsp: ENSP00000368040.1:p.Leu244Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.731T>C
  hgvsp: ENSP00000368027.3:p.Leu244Pro
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.749T>C
  hgvsp: ENSP00000368021.3:p.Leu250Pro
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu250Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

10-13161015-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161015
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161015
    reference: chr 10
allele count: 4
allele frequency: 3.299132328197684e-5
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.754G>C
  hgvsp: ENSP00000368022.3:p.Val252Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.754G>C
  hgvsp: ENSP00000263036.3:p.Val252Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.736G>C
  hgvsp: ENSP00000368040.1:p.Val246Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.736G>C
  hgvsp: ENSP00000368027.3:p.Val246Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.754G>C
  hgvsp: ENSP00000368032.2:p.Val252Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.201G>C
  hgvsp: ENSP00000400356.1:p.Val68Leu
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.754G>C
  hgvsp: ENSP00000368021.3:p.Val252Leu
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val252Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

10-13161018-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161018
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161018
    reference: chr 10
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.204G>T
  hgvsp: ENSP00000400356.1:p.Ala69Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.757G>T
  hgvsp: ENSP00000368022.3:p.Ala253Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.757G>T
  hgvsp: ENSP00000368032.2:p.Ala253Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.757G>T
  hgvsp: ENSP00000263036.3:p.Ala253Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.739G>T
  hgvsp: ENSP00000368040.1:p.Ala247Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.757G>T
  hgvsp: ENSP00000368021.3:p.Ala253Ser
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.739G>T
  hgvsp: ENSP00000368027.3:p.Ala247Ser
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala253Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

10-13161020-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161020
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161020
    reference: chr 10
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.759A>G
  hgvsp: ENST00000378748.3:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.759A>G
  hgvsp: ENST00000378747.3:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.741A>G
  hgvsp: ENST00000378752.3:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.759A>G
  hgvsp: ENST00000263036.5:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.759A>G
  hgvsp: ENST00000378757.2:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.206A>G
  hgvsp: ENST00000424614.1:c.206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.741A>G
  hgvsp: ENST00000378764.2:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala253Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

10-13161026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161026
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161026
    reference: chr 10
allele count: 2
allele frequency: 1.656012983141788e-5
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.747G>A
  hgvsp: ENST00000378752.3:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.765G>A
  hgvsp: ENST00000263036.5:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.747G>A
  hgvsp: ENST00000378764.2:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.765G>A
  hgvsp: ENST00000378757.2:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.765G>A
  hgvsp: ENST00000378747.3:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.212G>A
  hgvsp: ENST00000424614.1:c.212G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.765G>A
  hgvsp: ENST00000378748.3:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys255Lys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

10-13161034-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161034
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161034
    reference: chr 10
allele count: 1
allele frequency: 8.337502084375522e-6
allele num: 119940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.755A>G
  hgvsp: ENSP00000368027.3:p.Lys252Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.773A>G
  hgvsp: ENSP00000368022.3:p.Lys258Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.773A>G
  hgvsp: ENSP00000263036.3:p.Lys258Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.220A>G
  hgvsp: ENSP00000400356.1:p.Lys74Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.755A>G
  hgvsp: ENSP00000368040.1:p.Lys252Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.773A>G
  hgvsp: ENSP00000368032.2:p.Lys258Arg
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.773A>G
  hgvsp: ENSP00000368021.3:p.Lys258Arg
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys258Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-13161038-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161038
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161038
    reference: chr 10
allele count: 44
allele frequency: 3.697168305184438e-4
allele num: 119010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.759A>T
  hgvsp: ENSP00000368040.1:p.Glu253Asp
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.759A>T
  hgvsp: ENSP00000368027.3:p.Glu253Asp
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.777A>T
  hgvsp: ENSP00000368032.2:p.Glu259Asp
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.777A>T
  hgvsp: ENSP00000368022.3:p.Glu259Asp
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.777A>T
  hgvsp: ENSP00000263036.3:p.Glu259Asp
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.777A>T
  hgvsp: ENSP00000368021.3:p.Glu259Asp
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.224A>T
  hgvsp: ENSP00000400356.1:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14470
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27819
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 6976
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu259Asp
num of homozygotes: 1
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

10-13161050-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161050
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161050
    reference: chr 10
allele count: 13
allele frequency: 1.139770993704957e-4
allele num: 114058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.761+10A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.779+10A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.761+10A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.779+10A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.226+10A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.779+10A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.779+10A>G
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23369
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

10-13161060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161060
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161060
    reference: chr 10
allele count: 365
allele frequency: 3.349914646010389e-3
allele num: 108958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.226+20G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.779+20G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.779+20G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.779+20G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.761+20G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.779+20G>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.761+20G>A
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17624
  bin: 2.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14287
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 3.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 1.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 2.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 9.75e1
  variant carriers: 343
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 8
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

10-13161065-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161065
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161065
    reference: chr 10
allele count: 1
allele frequency: 9.352612184583154e-6
allele num: 106922
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.779+25A>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.761+25A>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.779+25A>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.779+25A>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.779+25A>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.226+25A>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.761+25A>T
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

10-13161066-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161066
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161066
    reference: chr 10
allele count: 2
allele frequency: 1.888395807761307e-5
allele num: 105910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.779+26T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.779+26T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.761+26T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.761+26T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.779+26T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.226+26T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.779+26T>C
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

10-13161076-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161076
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161076
    reference: chr 10
allele count: 1
allele frequency: 1.004944326084335e-5
allele num: 99508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.779+36T>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.779+36T>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.761+36T>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.226+36T>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.779+36T>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.761+36T>A
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.779+36T>A
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7297
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

10-13161080-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161080
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161080
    reference: chr 10
allele count: 1
allele frequency: 1.028637261356155e-5
allele num: 97216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.226+40A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.779+40A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.779+40A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.761+40A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.761+40A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.779+40A>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.779+40A>G
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7647
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

10-13161084-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161084
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161084
    reference: chr 10
allele count: 1
allele frequency: 1.090798027837166e-5
allele num: 91676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.779+44C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.779+44C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.779+44C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.226+44C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.761+44C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.761+44C>G
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.779+44C>G
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11640
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

10-13161086-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161086
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161086
    reference: chr 10
allele count: 2
allele frequency: 2.194281701884888e-5
allele num: 91146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.226+46T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.779+46T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.761+46T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.779+46T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.779+46T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.761+46T>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.779+46T>C
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11423
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19494
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

10-13161088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13161088
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13161088
    reference: chr 10
allele count: 1
allele frequency: 1.122989848171773e-5
allele num: 89048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.779+48C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.779+48C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.779+48C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.761+48C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.779+48C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.226+48C>T
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.761+48C>T
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7675
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/10-13164346-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13164346
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 13164346
    reference: chr 10
allele count: 1
allele frequency: 9.748108866879825e-6
allele num: 102584
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368022
  ensembl transcript: ENST00000378748
  gene symbol: OPTN
  hgvsc: ENST00000378748.3:c.780-39A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368021
  ensembl transcript: ENST00000378747
  gene symbol: OPTN
  hgvsc: ENST00000378747.3:c.780-39A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000400356
  ensembl transcript: ENST00000424614
  gene symbol: OPTN
  hgvsc: ENST00000424614.1:c.227-39A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000263036
  ensembl transcript: ENST00000263036
  gene symbol: OPTN
  hgvsc: ENST00000263036.5:c.780-39A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368040
  ensembl transcript: ENST00000378764
  gene symbol: OPTN
  hgvsc: ENST00000378764.2:c.762-39A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368032
  ensembl transcript: ENST00000378757
  gene symbol: OPTN
  hgvsc: ENST00000378757.2:c.780-39A>C
  variant of: http://identifiers.org/hgnc/17142
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123240
  ensembl protein: ENSP00000368027
  ensembl transcript: ENST00000378752
  gene symbol: OPTN
  hgvsc: ENST00000378752.3:c.762-39A>C
  variant of: http://identifiers.org/hgnc/17142
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 17973
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4223
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8075
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012501882813677e-5
allele num: 66390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.542e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

FS
type: SiteQuality
SIO_000300: 3.419e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.602405e6

QD
type: SiteQuality
SIO_000300: 1.025e1

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

GenotypeQuality
all individuals: 466
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17966
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4222
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8071
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19689
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.634994206257242e-4
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.125e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

FS
type: SiteQuality
SIO_000300: 1.263e0

QD
type: SiteQuality
SIO_000300: 1.242e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 2.601978e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

GenotypeQuality
all individuals: 2014
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8069
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17963
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.823929961089494e-4
allele num: 16448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

FS
type: SiteQuality
SIO_000300: 1.184e0

DP
type: SiteQuality
SIO_000300: 2.602008e6

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17961
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8072
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.3124e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.649e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 2.601154e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.175e1

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

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17957
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 514
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2951
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.04268145647456e-5
allele num: 66352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

DP
type: SiteQuality
SIO_000300: 2.600541e6

FS
type: SiteQuality
SIO_000300: 2.446e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17946
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.962708537782139e-4
allele num: 10190
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.14e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.223e0

FS
type: SiteQuality
SIO_000300: 1.767e0

QD
type: SiteQuality
SIO_000300: 1.21e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.469e0

DP
type: SiteQuality
SIO_000300: 2.599459e6

GenotypeQuality
all individuals: 4185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 567
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19692
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2934
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3264
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17946
bin: 9.75e1
variant carriers: 1

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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 count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

QD
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FS
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ReadPosRankSum
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SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

DP
type: SiteQuality
SIO_000300: 2.598662e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

GenotypeQuality
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variant carriers: 10

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.218175173589962e-4
allele num: 16418
num of homozygotes: 0

East Asian
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allele count: 8
allele frequency: 9.272137227630969e-4
allele num: 8628
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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SIO_000300: -8.87e-1

InbreedingCoeff
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.266e0

ReadPosRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.824e1

BaseQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.168e1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.772700413630096e-3
allele num: 10154
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.209e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

GenotypeQuality
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variant carriers: 0

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

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: 10108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.58666e6

FS
type: SiteQuality
SIO_000300: 1.496e0

QD
type: SiteQuality
SIO_000300: 1.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.019e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16376
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 892
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African
type: Population
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: 6608
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511807214344027e-5
allele num: 66146
num of homozygotes: 0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.580527e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.872e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.52e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512035805007863e-5
allele num: 66136
num of homozygotes: 0

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

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

Other
type: Population
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MQ
type: SiteQuality
SIO_000300: 6.007e1

MQRankSum
type: SiteQuality
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FS
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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Other
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele num: 66076
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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East Asian
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allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.274e0

FS
type: SiteQuality
SIO_000300: 1.182e0

DP
type: SiteQuality
SIO_000300: 2.556229e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

MQ
type: SiteQuality
SIO_000300: 5.868e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.279775006113964e-4
allele num: 16356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65958
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 2.553202e6

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

FS
type: SiteQuality
SIO_000300: 2.211e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.75561797752809e-4
allele num: 11392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

FS
type: SiteQuality
SIO_000300: 2.211e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 2.553202e6

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517082347229808e-5
allele num: 65916
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: -6.161e-1

DP
type: SiteQuality
SIO_000300: 2.548262e6

QD
type: SiteQuality
SIO_000300: 8.82e0

FS
type: SiteQuality
SIO_000300: 1.531e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2887

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3678
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variant carriers: 6

GenotypeQuality
all individuals: 247
bin: 5.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.031221582297666e-4
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 496
allele frequency: 5.786280914605693e-2
allele num: 8572
num of homozygotes: 11

Latino
type: Population
allele count: 600
allele frequency: 5.276116778051354e-2
allele num: 11372
num of homozygotes: 20

Other
type: Population
allele count: 10
allele frequency: 1.118568232662192e-2
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 851
allele frequency: 8.496405750798722e-2
allele num: 10016
num of homozygotes: 36

South Asian
type: Population
allele count: 883
allele frequency: 5.404578283755661e-2
allele num: 16338
num of homozygotes: 29

European (Non-Finnish)
type: Population
allele count: 187
allele frequency: 2.837718898904368e-3
allele num: 65898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.99e0

DP
type: SiteQuality
SIO_000300: 2.538568e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.02e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.57e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.344e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518925815663163e-5
allele num: 65836
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.137e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.449e0

QD
type: SiteQuality
SIO_000300: 1.069e1

FS
type: SiteQuality
SIO_000300: 3.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.076e0

DP
type: SiteQuality
SIO_000300: 2.460343e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

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

African
type: Population
allele count: 1
allele frequency: 1.005631536604988e-4
allele num: 9944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.681433304699963e-4
allele num: 16298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.393133e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.306e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.594743613306377e-5
allele num: 65292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.926977325477593e-5
allele num: 11202
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.935e0

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

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533554165133113e-5
allele num: 65208
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 37
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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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African
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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: 0.0e0
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South Asian
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ClippingRankSum
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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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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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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QD
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FS
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MQRankSum
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InbreedingCoeff
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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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European (Finnish)
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allele count: 0
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num of homozygotes: 0

Latino
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African
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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African
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InbreedingCoeff
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DP
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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allele num: 66538
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Latino
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Other
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South 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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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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MQ
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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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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Other
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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Other
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African
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ClippingRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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QD
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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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

Other
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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: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
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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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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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SIO_000300: 1.80617e6

ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
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: 6614
num of homozygotes: 0

South Asian
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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 frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.984e1

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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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
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
allele num: 10404
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South Asian
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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SIO_000300: 1.806288e6

FS
type: SiteQuality
SIO_000300: 4.713e0

BaseQRankSum
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SIO_000300: -1.543e0

MQ
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SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -2.27e-1

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

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

South Asian
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allele num: 16512
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Other
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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African
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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: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.95e-1

QD
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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
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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 count: 0
allele frequency: 0.0e0
allele num: 8652
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
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.806256e6

ClippingRankSum
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MQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 1.1999e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: -3.678e0

InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
num of homozygotes: 0

Other
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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 count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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DP
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ReadPosRankSum
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QD
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

Latino
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allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

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

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

South Asian
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European (Non-Finnish)
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allele num: 66734
num of homozygotes: 0

Latino
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East Asian
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African
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Other
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ReadPosRankSum
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FS
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QD
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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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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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
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Latino
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num of homozygotes: 0

European (Finnish)
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Other
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African
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East Asian
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South Asian
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -4.627e0

DP
type: SiteQuality
SIO_000300: 1.805989e6

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
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allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
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SIO_000300: 1.0e-4

ClippingRankSum
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QD
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SIO_000300: 1.392e1

ReadPosRankSum
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SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 1.748e0

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.806113e6

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
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
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

ClippingRankSum
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SIO_000300: 4.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.806113e6

FS
type: SiteQuality
SIO_000300: 1.748e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.32e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 1.805769e6

FS
type: SiteQuality
SIO_000300: 1.154e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

Other
type: Population
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: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 1.805795e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.621e0

FS
type: SiteQuality
SIO_000300: 6.969e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.27e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
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DP
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 0.0e0
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

East Asian
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Other
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num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
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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: 6614
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

European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Other
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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 frequency: 0.0e0
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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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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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
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ClippingRankSum
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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 (Non-Finnish)
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allele count: 1
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allele num: 66730
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

VQSLOD
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.47e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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African
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DP
type: SiteQuality
SIO_000300: 1.803063e6

FS
type: SiteQuality
SIO_000300: 2.546e0

ClippingRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.908e1

QD
type: SiteQuality
SIO_000300: 1.269e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
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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allele frequency: 0.0e0
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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DP
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 5.99970001499925e-5
allele num: 66670
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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MQRankSum
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InbreedingCoeff
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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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variant carriers: 0

European (Non-Finnish)
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allele num: 66652
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African
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Latino
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South Asian
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European (Finnish)
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East Asian
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Other
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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DP
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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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East Asian
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Other
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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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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African
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East Asian
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Latino
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allele frequency: 1.742767514813524e-4
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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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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 9.362e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.544e0

QD
type: SiteQuality
SIO_000300: 1.438e1

VQSLOD
type: SiteQuality
SIO_000300: -7.962e-1

DP
type: SiteQuality
SIO_000300: 1.787186e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65940
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: -5.306999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.76401e6

FS
type: SiteQuality
SIO_000300: 4.262e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1323
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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
all individuals: 115
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GenotypeQuality
all individuals: 259
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

South Asian
type: Population
allele count: 44
allele frequency: 2.716720177821684e-3
allele num: 16196
num of homozygotes: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 1.737721e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 7.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.891e0

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
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bin: 9.75e1
variant carriers: 13

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
all individuals: 706
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GenotypeQuality
all individuals: 291
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.005227181342983e-4
allele num: 9948
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.748227629814141e-4
allele num: 10438
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.402048655569782e-5
allele num: 15620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.9673656702148e-5
allele num: 62756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.449e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

DP
type: SiteQuality
SIO_000300: 1.579763e6

GenotypeQuality
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
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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: 3716
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 247
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GenotypeQuality
all individuals: 387
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variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.041232819658476e-4
allele num: 9604
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.193317422434368e-3
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 340
allele frequency: 4.481940416556815e-2
allele num: 7586
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.316829075585989e-3
allele num: 15188
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.005172011078114e-5
allele num: 59938
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.735e0

FS
type: SiteQuality
SIO_000300: 1.049e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

QD
type: SiteQuality
SIO_000300: 1.334e1

DP
type: SiteQuality
SIO_000300: 1.386597e6

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1569
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
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variant carriers: 0

GenotypeQuality
all individuals: 18874
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3502
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GenotypeQuality
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GenotypeQuality
all individuals: 685
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GenotypeQuality
all individuals: 229
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.375894331315355e-4
allele num: 7268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58850
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.281989e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

FS
type: SiteQuality
SIO_000300: 2.133e0

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
all individuals: 3501
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1011
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GenotypeQuality
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GenotypeQuality
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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: 685
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GenotypeQuality
all individuals: 281
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7196
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.335291761249833e-4
allele num: 14978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.293e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.171e0

DP
type: SiteQuality
SIO_000300: 1.243044e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

FS
type: SiteQuality
SIO_000300: 2.972e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

GenotypeQuality
all individuals: 1677
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 321
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GenotypeQuality
all individuals: 4401
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.942515967786726e-5
allele num: 14404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 1.082396e6

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

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

QD
type: SiteQuality
SIO_000300: 1.31e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

GenotypeQuality
all individuals: 1517
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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
all individuals: 770
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GenotypeQuality
all individuals: 5015
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.880759826970096e-5
allele num: 53170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.052475e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

QD
type: SiteQuality
SIO_000300: 1.539e1

VQSLOD
type: SiteQuality
SIO_000300: -8.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.889e0

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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variant carriers: 0

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 850
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.001200720432259e-5
allele num: 49970
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.488e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e-1

DP
type: SiteQuality
SIO_000300: 1.022137e6

GenotypeQuality
all individuals: 1944
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variant carriers: 0

GenotypeQuality
all individuals: 7712
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GenotypeQuality
all individuals: 3491
bin: 9.75e1
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GenotypeQuality
all individuals: 3374
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GenotypeQuality
all individuals: 5449
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GenotypeQuality
all individuals: 4320
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GenotypeQuality
all individuals: 684
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GenotypeQuality
all individuals: 3082
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GenotypeQuality
all individuals: 15420
bin: 2.25e1
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GenotypeQuality
all individuals: 580
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.025602834024395e-5
allele num: 49682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.873e0

QD
type: SiteQuality
SIO_000300: 2.112e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

DP
type: SiteQuality
SIO_000300: 1.013136e6

GenotypeQuality
all individuals: 1192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3921
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5291
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3491
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5461
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6826
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.670564650851988e-4
allele num: 5986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.736e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

DP
type: SiteQuality
SIO_000300: 1.006885e6

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e0

VQSLOD
type: SiteQuality
SIO_000300: -3.594e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1