2-238268772-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268772
    reference: chr 2
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5623A>T
  hgvsp: ENSP00000315873.4:p.Thr1875Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5623A>T
  hgvsp: ENSP00000386844.1:p.Thr1875Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6241A>T
  hgvsp: ENSP00000295550.4:p.Thr2081Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5641A>T
  hgvsp: ENSP00000295546.4:p.Thr1881Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5638A>T
  hgvsp: ENSP00000315609.3:p.Thr1880Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4420A>T
  hgvsp: ENSP00000418285.1:p.Thr1474Ser
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr2081Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

2-238268776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268776
    reference: chr 2
allele count: 18
allele frequency: 1.49261157271506e-4
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5619C>T
  hgvsp: ENST00000409809.1:c.5619C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5619C>T
  hgvsp: ENST00000353578.4:c.5619C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4416C>T
  hgvsp: ENST00000472056.1:c.4416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5637C>T
  hgvsp: ENST00000346358.4:c.5637C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6237C>T
  hgvsp: ENST00000295550.4:c.6237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5634C>T
  hgvsp: ENST00000347401.3:c.5634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23436
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20456
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn2079Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-238268779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268779
    reference: chr 2
allele count: 4
allele frequency: 3.318400530944085e-5
allele num: 120540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5616G>A
  hgvsp: ENST00000409809.1:c.5616G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5631G>A
  hgvsp: ENST00000347401.3:c.5631G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6234G>A
  hgvsp: ENST00000295550.4:c.6234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5616G>A
  hgvsp: ENST00000353578.4:c.5616G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5634G>A
  hgvsp: ENST00000346358.4:c.5634G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4413G>A
  hgvsp: ENST00000472056.1:c.4413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val2078Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-238268788-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268788
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268788
    reference: chr 2
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5607G>T
  hgvsp: ENST00000353578.4:c.5607G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5625G>T
  hgvsp: ENST00000346358.4:c.5625G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4404G>T
  hgvsp: ENST00000472056.1:c.4404G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6225G>T
  hgvsp: ENST00000295550.4:c.6225G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5622G>T
  hgvsp: ENST00000347401.3:c.5622G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5607G>T
  hgvsp: ENST00000409809.1:c.5607G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9111
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro2075Pro
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-238268788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268788
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268788
    reference: chr 2
allele count: 4
allele frequency: 3.325684259536399e-5
allele num: 120276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4404G>A
  hgvsp: ENST00000472056.1:c.4404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5622G>A
  hgvsp: ENST00000347401.3:c.5622G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5625G>A
  hgvsp: ENST00000346358.4:c.5625G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5607G>A
  hgvsp: ENST00000409809.1:c.5607G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5607G>A
  hgvsp: ENST00000353578.4:c.5607G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6225G>A
  hgvsp: ENST00000295550.4:c.6225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9111
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Pro2075Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

2-238268789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268789
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268789
    reference: chr 2
allele count: 10
allele frequency: 8.315455104857889e-5
allele num: 120258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5621C>T
  hgvsp: ENSP00000315609.3:p.Pro1874Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5606C>T
  hgvsp: ENSP00000315873.4:p.Pro1869Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5624C>T
  hgvsp: ENSP00000295546.4:p.Pro1875Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6224C>T
  hgvsp: ENSP00000295550.4:p.Pro2075Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4403C>T
  hgvsp: ENSP00000418285.1:p.Pro1468Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5606C>T
  hgvsp: ENSP00000386844.1:p.Pro1869Leu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22867
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9113
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro2075Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-238268795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268795
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268795
    reference: chr 2
allele count: 1
allele frequency: 8.338892595063375e-6
allele num: 119920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5600G>A
  hgvsp: ENSP00000386844.1:p.Arg1867His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6218G>A
  hgvsp: ENSP00000295550.4:p.Arg2073His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4397G>A
  hgvsp: ENSP00000418285.1:p.Arg1466His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5600G>A
  hgvsp: ENSP00000315873.4:p.Arg1867His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5618G>A
  hgvsp: ENSP00000295546.4:p.Arg1873His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5615G>A
  hgvsp: ENSP00000315609.3:p.Arg1872His
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg2073His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

2-238268805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268805
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268805
    reference: chr 2
allele count: 145
allele frequency: 1.216728761789682e-3
allele num: 119172
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5593-3C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6211-3C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4390-3C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5593-3C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5608-3C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5611-3C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 20966
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 19919
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9202
  bin: 9.75e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
hgvs: c.6211-3C>T
num of homozygotes: 1
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-238268815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268815
    reference: chr 2
allele count: 10
allele frequency: 8.458233244239943e-5
allele num: 118228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4390-13T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5608-13T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5611-13T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5593-13T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5593-13T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6211-13T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18789
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9092
  bin: 9.75e1
  variant carriers: 10
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-238268826-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268826
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268826
    reference: chr 2
allele count: 1
allele frequency: 8.535773426430169e-6
allele num: 117154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5593-24A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5593-24A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5611-24A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5608-24A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4390-24A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6211-24A>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9081
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-238268838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268838
    reference: chr 2
allele count: 1
allele frequency: 8.643789437289307e-6
allele num: 115690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5608-36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5593-36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5593-36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5611-36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4390-36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6211-36C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9079
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

2-238268842-TTCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268842
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268839
    reference: chr 2
allele count: 1
allele frequency: 8.738050715646353e-6
allele num: 114442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5593-43_5593-41delTGA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4390-43_4390-41delTGA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5608-43_5608-41delTGA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5611-43_5611-41delTGA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5593-43_5593-41delTGA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6211-43_6211-41delTGA
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: TTCA
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-238268850-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238268850
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238268850
    reference: chr 2
allele count: 1
allele frequency: 8.932718762282489e-6
allele num: 111948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5593-48G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5608-48G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4390-48G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6211-48G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5611-48G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5593-48G>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12257
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4978
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-238269716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269716
    reference: chr 2
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+48C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+48C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+48C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+48C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+48C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+48C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
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genotype quality: GenotypeQuality
  all individuals: 6863
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genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-238269724-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269723
    reference: chr 2
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+39delC
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+39delC
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+39delC
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+39delC
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+39delC
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+39delC
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: AG
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-238269726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269726
    reference: chr 2
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+38C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+38C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+38C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+38C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+38C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+38C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-238269728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269728
    reference: chr 2
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+36C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12946
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-238269730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269730
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269730
    reference: chr 2
allele count: 2
allele frequency: 1.653575857792476e-5
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+34A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+34A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+34A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+34A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+34A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+34A>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

2-238269739-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269739
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269739
    reference: chr 2
allele count: 2
allele frequency: 1.650873311982039e-5
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+25T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+25T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+25T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+25T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+25T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+25T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12944
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-238269742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269742
    reference: chr 2
allele count: 2
allele frequency: 1.650655310158133e-5
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+22C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+22C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+22C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+22C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+22C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+22C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

2-238269742-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269742
    reference: chr 2
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+22C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+22C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+22C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+22C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+22C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+22C>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-238269743-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269743
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269743
    reference: chr 2
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+21T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

2-238269754-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269754
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269754
    reference: chr 2
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+10A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+10A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+10A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+10A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+10A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+10A>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

2-238269757-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269757
    reference: chr 2
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592+7A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607+7A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610+7A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389+7A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592+7A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210+7A>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: c.6210+7A>G
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-238269764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269764
    reference: chr 2
allele count: 16
allele frequency: 1.319348241968468e-4
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610C>T
  hgvsp: ENST00000346358.4:c.5610C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607C>T
  hgvsp: ENST00000347401.3:c.5607C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210C>T
  hgvsp: ENST00000295550.4:c.6210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592C>T
  hgvsp: ENST00000409809.1:c.5592C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389C>T
  hgvsp: ENST00000472056.1:c.4389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592C>T
  hgvsp: ENST00000353578.4:c.5592C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19060
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
hgvs: c.6210C>T
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-238269764-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269764
    reference: chr 2
allele count: 5
allele frequency: 4.122963256151461e-5
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5610C>A
  hgvsp: ENST00000346358.4:c.5610C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4389C>A
  hgvsp: ENST00000472056.1:c.4389C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5607C>A
  hgvsp: ENST00000347401.3:c.5607C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5592C>A
  hgvsp: ENST00000353578.4:c.5592C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6210C>A
  hgvsp: ENST00000295550.4:c.6210C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5592C>A
  hgvsp: ENST00000409809.1:c.5592C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12953
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: c.6210C>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

2-238269765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269765
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269765
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5609C>T
  hgvsp: ENSP00000295546.4:p.Pro1870Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4388C>T
  hgvsp: ENSP00000418285.1:p.Pro1463Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5591C>T
  hgvsp: ENSP00000386844.1:p.Pro1864Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5591C>T
  hgvsp: ENSP00000315873.4:p.Pro1864Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5606C>T
  hgvsp: ENSP00000315609.3:p.Pro1869Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6209C>T
  hgvsp: ENSP00000295550.4:p.Pro2070Leu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro2070Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

2-238269766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269766
    reference: chr 2
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4387C>T
  hgvsp: ENSP00000418285.1:p.Pro1463Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5590C>T
  hgvsp: ENSP00000386844.1:p.Pro1864Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5590C>T
  hgvsp: ENSP00000315873.4:p.Pro1864Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6208C>T
  hgvsp: ENSP00000295550.4:p.Pro2070Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5605C>T
  hgvsp: ENSP00000315609.3:p.Pro1869Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5608C>T
  hgvsp: ENSP00000295546.4:p.Pro1870Ser
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro2070Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

2-238269775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269775
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269775
    reference: chr 2
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5596G>A
  hgvsp: ENSP00000315609.3:p.Glu1866Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5581G>A
  hgvsp: ENSP00000315873.4:p.Glu1861Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6199G>A
  hgvsp: ENSP00000295550.4:p.Glu2067Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5599G>A
  hgvsp: ENSP00000295546.4:p.Glu1867Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5581G>A
  hgvsp: ENSP00000386844.1:p.Glu1861Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4378G>A
  hgvsp: ENSP00000418285.1:p.Glu1460Lys
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu2067Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-238269776-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269776
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5595T>G
  hgvsp: ENSP00000315609.3:p.Asp1865Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4377T>G
  hgvsp: ENSP00000418285.1:p.Asp1459Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5598T>G
  hgvsp: ENSP00000295546.4:p.Asp1866Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5580T>G
  hgvsp: ENSP00000315873.4:p.Asp1860Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6198T>G
  hgvsp: ENSP00000295550.4:p.Asp2066Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5580T>G
  hgvsp: ENSP00000386844.1:p.Asp1860Glu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp2066Glu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-238269776-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269776
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5580T>C
  hgvsp: ENST00000353578.4:c.5580T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5598T>C
  hgvsp: ENST00000346358.4:c.5598T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5595T>C
  hgvsp: ENST00000347401.3:c.5595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4377T>C
  hgvsp: ENST00000472056.1:c.4377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5580T>C
  hgvsp: ENST00000409809.1:c.5580T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6198T>C
  hgvsp: ENST00000295550.4:c.6198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12944
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp2066Asp
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-238269784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269784
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269784
    reference: chr 2
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5572C>T
  hgvsp: ENSP00000386844.1:p.Pro1858Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5572C>T
  hgvsp: ENSP00000315873.4:p.Pro1858Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4369C>T
  hgvsp: ENSP00000418285.1:p.Pro1457Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5587C>T
  hgvsp: ENSP00000315609.3:p.Pro1863Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5590C>T
  hgvsp: ENSP00000295546.4:p.Pro1864Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6190C>T
  hgvsp: ENSP00000295550.4:p.Pro2064Ser
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro2064Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

2-238269792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269792
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269792
    reference: chr 2
allele count: 4
allele frequency: 3.296848213108268e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5582G>A
  hgvsp: ENSP00000295546.4:p.Arg1861Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4361G>A
  hgvsp: ENSP00000418285.1:p.Arg1454Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6182G>A
  hgvsp: ENSP00000295550.4:p.Arg2061Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5579G>A
  hgvsp: ENSP00000315609.3:p.Arg1860Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5564G>A
  hgvsp: ENSP00000315873.4:p.Arg1855Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5564G>A
  hgvsp: ENSP00000386844.1:p.Arg1855Gln
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12946
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg2061Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-238269794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269794
    reference: chr 2
allele count: 9
allele frequency: 7.417786202917663e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5577C>T
  hgvsp: ENST00000347401.3:c.5577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4359C>T
  hgvsp: ENST00000472056.1:c.4359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6180C>T
  hgvsp: ENST00000295550.4:c.6180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5580C>T
  hgvsp: ENST00000346358.4:c.5580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5562C>T
  hgvsp: ENST00000409809.1:c.5562C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5562C>T
  hgvsp: ENST00000353578.4:c.5562C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr2060Tyr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-238269799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269799
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269799
    reference: chr 2
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6175G>A
  hgvsp: ENSP00000295550.4:p.Gly2059Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5557G>A
  hgvsp: ENSP00000315873.4:p.Gly1853Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5575G>A
  hgvsp: ENSP00000295546.4:p.Gly1859Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5572G>A
  hgvsp: ENSP00000315609.3:p.Gly1858Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5557G>A
  hgvsp: ENSP00000386844.1:p.Gly1853Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4354G>A
  hgvsp: ENSP00000418285.1:p.Gly1452Ser
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly2059Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-238269800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269800
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269800
    reference: chr 2
allele count: 5
allele frequency: 4.121603798470061e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5556C>T
  hgvsp: ENST00000353578.4:c.5556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4353C>T
  hgvsp: ENST00000472056.1:c.4353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6174C>T
  hgvsp: ENST00000295550.4:c.6174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5556C>T
  hgvsp: ENST00000409809.1:c.5556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5574C>T
  hgvsp: ENST00000346358.4:c.5574C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5571C>T
  hgvsp: ENST00000347401.3:c.5571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19294
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp2058Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

2-238269809-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269809
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269809
    reference: chr 2
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6165T>A
  hgvsp: ENST00000295550.4:c.6165T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4344T>A
  hgvsp: ENST00000472056.1:c.4344T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5565T>A
  hgvsp: ENST00000346358.4:c.5565T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5547T>A
  hgvsp: ENST00000409809.1:c.5547T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5562T>A
  hgvsp: ENST00000347401.3:c.5562T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5547T>A
  hgvsp: ENST00000353578.4:c.5547T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12942
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro2055Pro
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-238269812-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269812
    reference: chr 2
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4341T>A
  hgvsp: ENST00000472056.1:c.4341T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5544T>A
  hgvsp: ENST00000409809.1:c.5544T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6162T>A
  hgvsp: ENST00000295550.4:c.6162T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5559T>A
  hgvsp: ENST00000347401.3:c.5559T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5562T>A
  hgvsp: ENST00000346358.4:c.5562T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5544T>A
  hgvsp: ENST00000353578.4:c.5544T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28337
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile2054Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-238269821-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269821
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269821
    reference: chr 2
allele count: 2
allele frequency: 1.649484536082474e-5
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-4T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-4T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-4T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-4T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-4T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-4T>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 79
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 463
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genotype depth: GenotypeDepth
  all individuals: 992
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1637
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genotype depth: GenotypeDepth
  all individuals: 2654
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genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12943
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 7313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: c.6157-4T>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-238269829-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269829
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269829
    reference: chr 2
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-12A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-12A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-12A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-12A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-12A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-12A>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
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genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4809
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-238269833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269833
    reference: chr 2
allele count: 594
allele frequency: 4.906495737791582e-3
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-16G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-16G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-16G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-16G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-16G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-16G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9918
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 49
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 12
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-238269833-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269834
    reference: chr 2
allele count: 2
allele frequency: 1.652018766933192e-5
allele num: 121064
alternate allele: CT
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-17_5539-16insA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-17_5554-16insA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-17_4336-16insA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-17_5557-16insA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-17_6157-16insA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-17_5539-16insA
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-238269833-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269833
    reference: chr 2
allele count: 7
allele frequency: 5.782065684266174e-5
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-16G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-16G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-16G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-16G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-16G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-16G>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-238269834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269834
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269834
    reference: chr 2
allele count: 9
allele frequency: 7.437524791749306e-5
allele num: 121008
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-17C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-17C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-17C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-17C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-17C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-17C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS

2-238269834-G-GTTTAATCCCGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269834
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269845
    reference: chr 2
allele count: 2
allele frequency: 1.652783287055401e-5
allele num: 121008
alternate allele: GTTTAATCCCGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9961
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-238269839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269839
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269839
    reference: chr 2
allele count: 2
allele frequency: 1.653603201375798e-5
allele num: 120948
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-22G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-22G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-22G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-22G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-22G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-22G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-238269851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269851
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269851
    reference: chr 2
allele count: 4
allele frequency: 3.31356241094801e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-34G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-34G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-34G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-34G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-34G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-34G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16474
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12865
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

2-238269853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269853
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269853
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-36C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-36C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12857
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3281
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-238269854-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269854
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269854
    reference: chr 2
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-37A>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-37A>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-37A>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-37A>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-37A>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-37A>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3248
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-238269856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269856
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269856
    reference: chr 2
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-39C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-39C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-39C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-39C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-39C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-39C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12858
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-238269866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269866
    reference: chr 2
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-49G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-49G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-49G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-49G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-49G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-49G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12860
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

2-238269869-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238269869
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238269869
    reference: chr 2
allele count: 1
allele frequency: 8.337224037884346e-6
allele num: 119944
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6157-52A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5554-52A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5539-52A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5539-52A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5557-52A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4336-52A>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 8515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
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genotype quality: GenotypeQuality
  all individuals: 12860
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4922
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genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2914
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genotype quality: GenotypeQuality
  all individuals: 4577
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genotype quality: GenotypeQuality
  all individuals: 87
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genotype quality: GenotypeQuality
  all individuals: 61
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genotype quality: GenotypeQuality
  all individuals: 315
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-238270331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270331
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270331
    reference: chr 2
allele count: 21
allele frequency: 1.731216303111243e-4
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+51G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+51G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+51G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+51G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+51G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+51G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4056
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 462
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6645
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20762
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  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 13785
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 167
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genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ

2-238270332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270332
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270332
    reference: chr 2
allele count: 15
allele frequency: 1.236521911168266e-4
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+50C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+50C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+50C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+50C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+50C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+50C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

2-238270340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270340
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270340
    reference: chr 2
allele count: 8
allele frequency: 6.594566077552098e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+42C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+42C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+42C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+42C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+42C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+42C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-238270356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270356
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270356
    reference: chr 2
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+26G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+26G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+26G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+26G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+26G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+26G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20696
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-238270357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270357
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270357
    reference: chr 2
allele count: 173
allele frequency: 1.425745838140761e-3
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+25C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+25C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+25C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+25C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+25C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+25C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 9.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20705
  bin: 9.75e1
  variant carriers: 173
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-238270357-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270357
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270357
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+25C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+25C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+25C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+25C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+25C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+25C>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-238270359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270359
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270359
    reference: chr 2
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+23C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+23C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+23C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+23C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+23C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+23C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-238270361-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270361
    reference: chr 2
allele count: 9
allele frequency: 7.417174880501072e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+21C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+21C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+21C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+21C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+21C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+21C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20597
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-238270366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270366
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270366
    reference: chr 2
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+16C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+16C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+16C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+16C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+16C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+16C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20587
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-238270367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270367
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270367
    reference: chr 2
allele count: 6
allele frequency: 4.94445726340772e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+15C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+15C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+15C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+15C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+15C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+15C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-238270377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270377
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270377
    reference: chr 2
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+5G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+5G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+5G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+5G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+5G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+5G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  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: 62
  bin: 2.25e1
  variant carriers: 0
hgvs: c.6156+5G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

2-238270378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270378
    reference: chr 2
allele count: 1451
allele frequency: 1.195537538725199e-2
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6156+4C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5553+4C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5538+4C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5538+4C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4335+4C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5556+4C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13242
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 9.75e1
  variant carriers: 923
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: c.6156+4C>T
num of homozygotes: 16
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-238270384-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270384
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5551A>G
  hgvsp: ENSP00000315609.3:p.Lys1851Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4333A>G
  hgvsp: ENSP00000418285.1:p.Lys1445Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5536A>G
  hgvsp: ENSP00000386844.1:p.Lys1846Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5554A>G
  hgvsp: ENSP00000295546.4:p.Lys1852Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6154A>G
  hgvsp: ENSP00000295550.4:p.Lys2052Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5536A>G
  hgvsp: ENSP00000315873.4:p.Lys1846Glu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15161
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys2052Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-238270386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270386
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5552C>T
  hgvsp: ENSP00000295546.4:p.Pro1851Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5549C>T
  hgvsp: ENSP00000315609.3:p.Pro1850Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5534C>T
  hgvsp: ENSP00000386844.1:p.Pro1845Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4331C>T
  hgvsp: ENSP00000418285.1:p.Pro1444Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5534C>T
  hgvsp: ENSP00000315873.4:p.Pro1845Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6152C>T
  hgvsp: ENSP00000295550.4:p.Pro2051Leu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6885
  bin: 6.75e1
  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: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro2051Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-238270387-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270387
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270387
    reference: chr 2
allele count: 5
allele frequency: 4.119634176485128e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5548C>A
  hgvsp: ENSP00000315609.3:p.Pro1850Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4330C>A
  hgvsp: ENSP00000418285.1:p.Pro1444Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5551C>A
  hgvsp: ENSP00000295546.4:p.Pro1851Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5533C>A
  hgvsp: ENSP00000386844.1:p.Pro1845Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5533C>A
  hgvsp: ENSP00000315873.4:p.Pro1845Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6151C>A
  hgvsp: ENSP00000295550.4:p.Pro2051Thr
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  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
hgvs: p.Pro2051Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-238270391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270391
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270391
    reference: chr 2
allele count: 6
allele frequency: 4.943805411818991e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5544C>T
  hgvsp: ENST00000347401.3:c.5544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5529C>T
  hgvsp: ENST00000409809.1:c.5529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4326C>T
  hgvsp: ENST00000472056.1:c.4326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5547C>T
  hgvsp: ENST00000346358.4:c.5547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5529C>T
  hgvsp: ENST00000353578.4:c.5529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6147C>T
  hgvsp: ENST00000295550.4:c.6147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15143
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile2049Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-238270400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270400
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270400
    reference: chr 2
allele count: 27
allele frequency: 2.22441917943648e-4
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5520C>T
  hgvsp: ENST00000353578.4:c.5520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5520C>T
  hgvsp: ENST00000409809.1:c.5520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6138C>T
  hgvsp: ENST00000295550.4:c.6138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4317C>T
  hgvsp: ENST00000472056.1:c.4317C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5535C>T
  hgvsp: ENST00000347401.3:c.5535C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5538C>T
  hgvsp: ENST00000346358.4:c.5538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13614
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile2046Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-238270405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270405
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270405
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5530C>T
  hgvsp: ENSP00000315609.3:p.Pro1844Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5515C>T
  hgvsp: ENSP00000315873.4:p.Pro1839Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5533C>T
  hgvsp: ENSP00000295546.4:p.Pro1845Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5515C>T
  hgvsp: ENSP00000386844.1:p.Pro1839Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4312C>T
  hgvsp: ENSP00000418285.1:p.Pro1438Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6133C>T
  hgvsp: ENSP00000295550.4:p.Pro2045Ser
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro2045Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-238270406-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270406
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270406
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5514G>T
  hgvsp: ENST00000353578.4:c.5514G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5532G>T
  hgvsp: ENST00000346358.4:c.5532G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5529G>T
  hgvsp: ENST00000347401.3:c.5529G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5514G>T
  hgvsp: ENST00000409809.1:c.5514G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4311G>T
  hgvsp: ENST00000472056.1:c.4311G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6132G>T
  hgvsp: ENST00000295550.4:c.6132G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19716
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly2044Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

2-238270409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270409
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270409
    reference: chr 2
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5511C>T
  hgvsp: ENST00000353578.4:c.5511C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5511C>T
  hgvsp: ENST00000409809.1:c.5511C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5529C>T
  hgvsp: ENST00000346358.4:c.5529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5526C>T
  hgvsp: ENST00000347401.3:c.5526C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4308C>T
  hgvsp: ENST00000472056.1:c.4308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6129C>T
  hgvsp: ENST00000295550.4:c.6129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg2043Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-238270410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238270410
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238270410
    reference: chr 2
allele count: 4
allele frequency: 3.295381522795802e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5510G>A
  hgvsp: ENSP00000386844.1:p.Arg1837His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.4307G>A
  hgvsp: ENSP00000418285.1:p.Arg1436His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5525G>A
  hgvsp: ENSP00000315609.3:p.Arg1842His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5528G>A
  hgvsp: ENSP00000295546.4:p.Arg1843His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5510G>A
  hgvsp: ENSP00000315873.4:p.Arg1837His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.6128G>A
  hgvsp: ENSP00000295550.4:p.Arg2043His
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg2043His
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 9110
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6206
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 9.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 5.376e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

DP
type: SiteQuality
SIO_000300: 2.066948e6

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9123
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 6175
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 11
allele frequency: 1.064241486068111e-3
allele num: 10336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511956685215822e-5
allele num: 66490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116207951070337e-5
allele num: 16350
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737921445950643e-4
allele num: 11508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 2.065972e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

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

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9110
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.627487274409995e-4
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.514e0

QD
type: SiteQuality
SIO_000300: 1.041e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 2.064217e6

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

GenotypeQuality
all individuals: 6056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 2.059712e6

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.25e-1

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

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.519569736961041e-5
allele num: 66378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

DP
type: SiteQuality
SIO_000300: 2.059712e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

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

GenotypeQuality
all individuals: 1105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.581777918380259e-4
allele num: 6322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.356197824055936e-4
allele num: 66362
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.157e1

DP
type: SiteQuality
SIO_000300: 2.058758e6

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

FS
type: SiteQuality
SIO_000300: 5.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 1512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9106
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38806
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.74089226573154e-5
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

QD
type: SiteQuality
SIO_000300: 9.73e0

FS
type: SiteQuality
SIO_000300: 1.2575e1

DP
type: SiteQuality
SIO_000300: 2.05041e6

VQSLOD
type: SiteQuality
SIO_000300: -4.628e-1

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

GenotypeQuality
all individuals: 349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37064
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2549
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5743
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.071829745893925e-5
allele num: 65878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 136
allele frequency: 1.334641805691855e-2
allele num: 10190
num of homozygotes: 1

Latino
type: Population
allele count: 5
allele frequency: 4.393673110720562e-4
allele num: 11380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.030627e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.593e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

QD
type: SiteQuality
SIO_000300: 1.421e1

VQSLOD
type: SiteQuality
SIO_000300: 5.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 1280
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.224027663025184e-4
allele num: 65358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.769285208775655e-4
allele num: 11304
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.984627e6

QD
type: SiteQuality
SIO_000300: 1.323e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

FS
type: SiteQuality
SIO_000300: 6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2953
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.986019572598362e-5
allele num: 10014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: -3.014e0

MQRankSum
type: SiteQuality
SIO_000300: -1.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.964e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

DP
type: SiteQuality
SIO_000300: 1.884768e6

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560159760359461e-5
allele num: 64096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.66e1

DP
type: SiteQuality
SIO_000300: 1.77045e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.316e0

VQSLOD
type: SiteQuality
SIO_000300: -2.529e0

FS
type: SiteQuality
SIO_000300: 6.537e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.025e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 10913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.213592233009709e-4
allele num: 8240
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15344
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

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

MQ
type: SiteQuality
SIO_000300: 5.114e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

QD
type: SiteQuality
SIO_000300: 2.296e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeQuality
all individuals: 1753
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.63129973474801e-5
allele num: 15080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61994
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.643e1

FS
type: SiteQuality
SIO_000300: 3.424e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.638e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.109e0

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.709606e6

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19236
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 7.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.763e0

FS
type: SiteQuality
SIO_000300: 4.861e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

VQSLOD
type: SiteQuality
SIO_000300: -1.398e0

DP
type: SiteQuality
SIO_000300: 2.16479e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.098e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

FS
type: SiteQuality
SIO_000300: 4.706e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.096e0

QD
type: SiteQuality
SIO_000300: 1.24e1

DP
type: SiteQuality
SIO_000300: 2.18462e6

GenotypeQuality
all individuals: 1185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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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
all individuals: 12947
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.422e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

DP
type: SiteQuality
SIO_000300: 2.18875e6

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2555
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GenotypeQuality
all individuals: 296
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.192012e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.223e0

VQSLOD
type: SiteQuality
SIO_000300: -3.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007971123477215e-5
allele num: 66490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-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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bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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FS
type: SiteQuality
SIO_000300: 4.43e0

DP
type: SiteQuality
SIO_000300: 2.207447e6

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
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ReadPosRankSum
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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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002011347602894e-5
allele num: 66622
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.589e0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.283e0

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

DP
type: SiteQuality
SIO_000300: 2.209944e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.439e0

DP
type: SiteQuality
SIO_000300: 2.210184e6

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

BaseQRankSum
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SIO_000300: 1.6e0

ReadPosRankSum
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SIO_000300: 7.91e-1

MQRankSum
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SIO_000300: -6.6e-2

MQ
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 99
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e0

DP
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SIO_000300: 2.215277e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 4.741e0

QD
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SIO_000300: 1.252e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
all individuals: 1794
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.62e-1

FS
type: SiteQuality
SIO_000300: 3.313e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

QD
type: SiteQuality
SIO_000300: 2.079e1

MQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.137e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.216126e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.701673538685423e-4
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

FS
type: SiteQuality
SIO_000300: 1.119e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.035e1

DP
type: SiteQuality
SIO_000300: 2.219772e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.500075000750007e-5
allele num: 66666
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.035e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

FS
type: SiteQuality
SIO_000300: 1.119e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

DP
type: SiteQuality
SIO_000300: 2.219772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.399e0

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.851e1

DP
type: SiteQuality
SIO_000300: 2.218515e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 5.159e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.863e0

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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bin: 8.25e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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MQ
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ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.135e0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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 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: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.105e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

MQ
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ReadPosRankSum
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DP
type: SiteQuality
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MQRankSum
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BaseQRankSum
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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
all individuals: 10
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
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DP
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.69e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12943
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

VQSLOD
type: SiteQuality
SIO_000300: -3.881e-1

DP
type: SiteQuality
SIO_000300: 2.220129e6

FS
type: SiteQuality
SIO_000300: 5.595e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.091e0

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49707690001499e-5
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
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: 11560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 2.220386e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 1.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.325e1

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

GenotypeQuality
all individuals: 2710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12950
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 28427
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
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variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 8
allele frequency: 7.704160246533128e-4
allele num: 10384
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: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.220448e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.744e0

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeQuality
all individuals: 1199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12943
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.220317e6

FS
type: SiteQuality
SIO_000300: 3.406e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.34e1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12945
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

FS
type: SiteQuality
SIO_000300: 5.683e0

DP
type: SiteQuality
SIO_000300: 2.22039e6

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.308e0

QD
type: SiteQuality
SIO_000300: 6.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 5.858e1

MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

FS
type: SiteQuality
SIO_000300: 1.139e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.219794e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2542
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12942
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2693
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.969e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.254e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.386e0

DP
type: SiteQuality
SIO_000300: 2.218957e6

FS
type: SiteQuality
SIO_000300: 1.609e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.94e-1

QD
type: SiteQuality
SIO_000300: 6.02e0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 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: 11552
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.926782273603083e-4
allele num: 10380
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

FS
type: SiteQuality
SIO_000300: 2.657e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 1.186e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 2.217244e6

GenotypeQuality
all individuals: 1792
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.235e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-2

DP
type: SiteQuality
SIO_000300: 2.211005e6

QD
type: SiteQuality
SIO_000300: 1.56e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

GenotypeQuality
all individuals: 7164
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
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GenotypeQuality
all individuals: 1165
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13312
bin: 9.75e1
variant carriers: 577

European (Non-Finnish)
type: Population
allele count: 53
allele frequency: 7.961065881575389e-4
allele num: 66574
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.434589800443459e-3
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

African
type: Population
allele count: 490
allele frequency: 4.731556585554268e-2
allele num: 10356
num of homozygotes: 11

South Asian
type: Population
allele count: 3
allele frequency: 1.821936110773715e-4
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 43
allele frequency: 3.731343283582089e-3
allele num: 11524
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.27e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 2.217772e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.33e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

DP
type: SiteQuality
SIO_000300: 2.217772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.27e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

FS
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

GenotypeQuality
all individuals: 1165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 2509
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7164
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.251184258472003e-4
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 2.217772e6

FS
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.27e-2

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12875
bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 8.25e1
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: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.101851851851852e-4
allele num: 8640
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: 66548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.162e0

DP
type: SiteQuality
SIO_000300: 2.202319e6

FS
type: SiteQuality
SIO_000300: 1.343e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 281
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variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.343e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.162e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

QD
type: SiteQuality
SIO_000300: 1.242e1

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 2.202319e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.57e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1784
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variant carriers: 0

GenotypeQuality
all individuals: 7162
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 5.562e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.232e0

QD
type: SiteQuality
SIO_000300: 1.132e1

FS
type: SiteQuality
SIO_000300: 2.361e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.576e0

DP
type: SiteQuality
SIO_000300: 2.1901e6

GenotypeQuality
all individuals: 2512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1170
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variant carriers: 0

GenotypeQuality
all individuals: 6535
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.023007890140336e-5
allele num: 66412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

FS
type: SiteQuality
SIO_000300: 6.796e0

DP
type: SiteQuality
SIO_000300: 2.140616e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.04e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6480
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

FS
type: SiteQuality
SIO_000300: 3.214e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 2.134426e6

QD
type: SiteQuality
SIO_000300: 1.652e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.178e0

QD
type: SiteQuality
SIO_000300: 1.285e1

FS
type: SiteQuality
SIO_000300: 7.804e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.113347e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507522537461935e-5
allele num: 66334
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.443e0

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.88e-1

DP
type: SiteQuality
SIO_000300: 2.112363e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
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QD
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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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

African
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
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512996641147457e-5
allele num: 66094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.154e0

DP
type: SiteQuality
SIO_000300: 2.076138e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

MQ
type: SiteQuality
SIO_000300: 5.705e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.684e-1

QD
type: SiteQuality
SIO_000300: 2.285e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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
all individuals: 4521
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.720062208398134e-5
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.07562e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.007e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.604e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.512e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 14
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variant carriers: 0

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

GenotypeQuality
all individuals: 3502
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
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GenotypeQuality
all individuals: 3164
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49842555105713e-5
allele num: 66690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.029678982434888e-3
allele num: 16510
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

DP
type: SiteQuality
SIO_000300: 2.624597e6

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20728
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variant carriers: 15

GenotypeQuality
all individuals: 3499
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.649422702054281e-4
allele num: 66690
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

QD
type: SiteQuality
SIO_000300: 1.403e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 2.624606e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 20711
bin: 9.75e1
variant carriers: 8

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 7.714561234329798e-4
allele num: 10370
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

FS
type: SiteQuality
SIO_000300: 9.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.94e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.624867e6

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4990
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2236
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variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.862e0

DP
type: SiteQuality
SIO_000300: 2.626151e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 6725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3155
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variant carriers: 0

GenotypeQuality
all individuals: 3492
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variant carriers: 0

GenotypeQuality
all individuals: 2233
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 101
allele frequency: 1.514061282005157e-3
allele num: 66708
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 46
allele frequency: 2.785852713178295e-3
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 21
allele frequency: 3.175083156939824e-3
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 2.630384e6

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

QD
type: SiteQuality
SIO_000300: 1.325e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

GenotypeQuality
all individuals: 2233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20705
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GenotypeQuality
all individuals: 3155
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variant carriers: 0

GenotypeQuality
all individuals: 3492
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 6725
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 2.630384e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-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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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.47e0

DP
type: SiteQuality
SIO_000300: 2.622659e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.04e1

ReadPosRankSum
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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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.349203969657902e-4
allele num: 66706
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
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 count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 902
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.366e1

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

DP
type: SiteQuality
SIO_000300: 2.622788e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.312e0

ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 2.622834e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.304e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3500
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.19e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.899e0

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

DP
type: SiteQuality
SIO_000300: 2.623138e6

FS
type: SiteQuality
SIO_000300: 6.39e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 4380
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3479
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variant carriers: 0

GenotypeQuality
all individuals: 20715
bin: 9.75e1
variant carriers: 1432

GenotypeQuality
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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: 4973
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3159
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 200
allele frequency: 1.211240310077519e-2
allele num: 16512
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 35
allele frequency: 5.291805261566375e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 103
allele frequency: 8.897719419488597e-3
allele num: 11576
num of homozygotes: 1

African
type: Population
allele count: 22
allele frequency: 2.11579149836507e-3
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1088
allele frequency: 1.630793213022363e-2
allele num: 66716
num of homozygotes: 12

Other
type: Population
allele count: 3
allele frequency: 3.31858407079646e-3
allele num: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

DP
type: SiteQuality
SIO_000300: 2.682398e6

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

GenotypeQuality
all individuals: 6887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 2264
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e0

DP
type: SiteQuality
SIO_000300: 2.587558e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

QD
type: SiteQuality
SIO_000300: 1.525e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19739
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.452e0

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.587667e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 19738
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 2264
bin: 8.75e1
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GenotypeQuality
all individuals: 5099
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49667246237784e-5
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.993e0

DP
type: SiteQuality
SIO_000300: 2.587917e6

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19734
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 3236
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 6857
bin: 6.75e1
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GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99610253335332e-5
allele num: 66710
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.588248e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

QD
type: SiteQuality
SIO_000300: 1.021e1

FS
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
all individuals: 3562
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GenotypeQuality
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bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 5097
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GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 25
allele frequency: 2.403846153846154e-3
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.58979e6

QD
type: SiteQuality
SIO_000300: 1.26e1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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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: 3242
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variant carriers: 0

GenotypeQuality
all individuals: 5099
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.413e1

DP
type: SiteQuality
SIO_000300: 2.587906e6

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.942e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.142e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 6888
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GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.885e0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 2.587896e6

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3566
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19715
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.587915e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.251e1

VQSLOD
type: SiteQuality
SIO_000300: -1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 6.46e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0