2-238280552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280552
    reference: chr 2
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
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.4108G>A
  hgvsp: ENSP00000295550.4:p.Ala1370Thr
  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.3490G>A
  hgvsp: ENSP00000315873.4:p.Ala1164Thr
  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.2287G>A
  hgvsp: ENSP00000418285.1:p.Ala763Thr
  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.3490G>A
  hgvsp: ENSP00000386844.1:p.Ala1164Thr
  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.3505G>A
  hgvsp: ENSP00000315609.3:p.Ala1169Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3490G>A
  hgvsp: ENSP00000375861.3:p.Ala1164Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2887G>A
  hgvsp: ENSP00000375860.2:p.Ala963Thr
  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.3508G>A
  hgvsp: ENSP00000295546.4:p.Ala1170Thr
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1370Thr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

2-238280553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280553
    reference: chr 2
allele count: 658
allele frequency: 5.429580486516817e-3
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3489C>T
  hgvsp: ENST00000353578.4:c.3489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.4107C>T
  hgvsp: ENST00000295550.4:c.4107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2886C>T
  hgvsp: ENST00000392003.2:c.2886C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.3489C>T
  hgvsp: ENST00000409809.1:c.3489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3489C>T
  hgvsp: ENST00000392004.3:c.3489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.3507C>T
  hgvsp: ENST00000346358.4:c.3507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.3504C>T
  hgvsp: ENST00000347401.3:c.3504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2286C>T
  hgvsp: ENST00000472056.1:c.2286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 12148
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14828
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11311
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile1369Ile
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-238280553-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280553
    reference: chr 2
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2886C>G
  hgvsp: ENSP00000375860.2:p.Ile962Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.3489C>G
  hgvsp: ENSP00000386844.1:p.Ile1163Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.4107C>G
  hgvsp: ENSP00000295550.4:p.Ile1369Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3489C>G
  hgvsp: ENSP00000375861.3:p.Ile1163Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2286C>G
  hgvsp: ENSP00000418285.1:p.Ile762Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3489C>G
  hgvsp: ENSP00000315873.4:p.Ile1163Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.3507C>G
  hgvsp: ENSP00000295546.4:p.Ile1169Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.3504C>G
  hgvsp: ENSP00000315609.3:p.Ile1168Met
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12918
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile1369Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

2-238280556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280556
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280556
    reference: chr 2
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2883G>A
  hgvsp: ENST00000392003.2:c.2883G>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.2283G>A
  hgvsp: ENST00000472056.1:c.2283G>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.3486G>A
  hgvsp: ENST00000353578.4:c.3486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3486G>A
  hgvsp: ENST00000392004.3:c.3486G>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.3504G>A
  hgvsp: ENST00000346358.4:c.3504G>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.3501G>A
  hgvsp: ENST00000347401.3:c.3501G>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.4104G>A
  hgvsp: ENST00000295550.4:c.4104G>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.3486G>A
  hgvsp: ENST00000409809.1:c.3486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr1368Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-238280557-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280557
    reference: chr 2
allele count: 48
allele frequency: 3.961376578360981e-4
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.4103C>T
  hgvsp: ENSP00000295550.4:p.Thr1368Met
  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.2282C>T
  hgvsp: ENSP00000418285.1:p.Thr761Met
  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.3485C>T
  hgvsp: ENSP00000315873.4:p.Thr1162Met
  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.3500C>T
  hgvsp: ENSP00000315609.3:p.Thr1167Met
  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.3503C>T
  hgvsp: ENSP00000295546.4:p.Thr1168Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2882C>T
  hgvsp: ENSP00000375860.2:p.Thr961Met
  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.3485C>T
  hgvsp: ENSP00000386844.1:p.Thr1162Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3485C>T
  hgvsp: ENSP00000375861.3:p.Thr1162Met
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19844
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr1368Met
num of homozygotes: 1
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ

2-238280563-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280563
    reference: chr 2
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.4097C>G
  hgvsp: ENSP00000295550.4:p.Pro1366Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2876C>G
  hgvsp: ENSP00000375860.2:p.Pro959Arg
  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.3497C>G
  hgvsp: ENSP00000295546.4:p.Pro1166Arg
  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.3479C>G
  hgvsp: ENSP00000315873.4:p.Pro1160Arg
  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.2276C>G
  hgvsp: ENSP00000418285.1:p.Pro759Arg
  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.3479C>G
  hgvsp: ENSP00000386844.1:p.Pro1160Arg
  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.3494C>G
  hgvsp: ENSP00000315609.3:p.Pro1165Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3479C>G
  hgvsp: ENSP00000375861.3:p.Pro1160Arg
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14948
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1366Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-238280570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280570
    reference: chr 2
allele count: 51
allele frequency: 4.211604208300989e-4
allele num: 121094
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.3487G>A
  hgvsp: ENSP00000315609.3:p.Val1163Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2869G>A
  hgvsp: ENSP00000375860.2:p.Val957Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2269G>A
  hgvsp: ENSP00000418285.1:p.Val757Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.4090G>A
  hgvsp: ENSP00000295550.4:p.Val1364Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3472G>A
  hgvsp: ENSP00000375861.3:p.Val1158Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.3472G>A
  hgvsp: ENSP00000386844.1:p.Val1158Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.3490G>A
  hgvsp: ENSP00000295546.4:p.Val1164Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3472G>A
  hgvsp: ENSP00000315873.4:p.Val1158Met
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14885
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val1364Met
num of homozygotes: 1
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-238280575-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280575
    reference: chr 2
allele count: 2
allele frequency: 1.65180046250413e-5
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2264T>A
  hgvsp: ENSP00000418285.1:p.Phe755Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3467T>A
  hgvsp: ENSP00000375861.3:p.Phe1156Tyr
  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.3482T>A
  hgvsp: ENSP00000315609.3:p.Phe1161Tyr
  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.3467T>A
  hgvsp: ENSP00000386844.1:p.Phe1156Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2864T>A
  hgvsp: ENSP00000375860.2:p.Phe955Tyr
  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.3485T>A
  hgvsp: ENSP00000295546.4:p.Phe1162Tyr
  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.3467T>A
  hgvsp: ENSP00000315873.4:p.Phe1156Tyr
  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.4085T>A
  hgvsp: ENSP00000295550.4:p.Phe1362Tyr
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12404
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Phe1362Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-238280578-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280578
    reference: chr 2
allele count: 4
allele frequency: 3.304474258145529e-5
allele num: 121048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.3479A>C
  hgvsp: ENSP00000315609.3:p.Gln1160Pro
  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.3482A>C
  hgvsp: ENSP00000295546.4:p.Gln1161Pro
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3464A>C
  hgvsp: ENSP00000375861.3:p.Gln1155Pro
  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.3464A>C
  hgvsp: ENSP00000315873.4:p.Gln1155Pro
  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.2261A>C
  hgvsp: ENSP00000418285.1:p.Gln754Pro
  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.3464A>C
  hgvsp: ENSP00000386844.1:p.Gln1155Pro
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2861A>C
  hgvsp: ENSP00000375860.2:p.Gln954Pro
  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.4082A>C
  hgvsp: ENSP00000295550.4:p.Gln1361Pro
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln1361Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-238280580-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280580
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280580
    reference: chr 2
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.4080G>T
  hgvsp: ENSP00000295550.4:p.Lys1360Asn
  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.3477G>T
  hgvsp: ENSP00000315609.3:p.Lys1159Asn
  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.3462G>T
  hgvsp: ENSP00000315873.4:p.Lys1154Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2859G>T
  hgvsp: ENSP00000375860.2:p.Lys953Asn
  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.3462G>T
  hgvsp: ENSP00000386844.1:p.Lys1154Asn
  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.2259G>T
  hgvsp: ENSP00000418285.1:p.Lys753Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3462G>T
  hgvsp: ENSP00000375861.3:p.Lys1154Asn
  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.3480G>T
  hgvsp: ENSP00000295546.4:p.Lys1160Asn
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1360Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-238280588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280588
    reference: chr 2
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
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.3472G>A
  hgvsp: ENSP00000295546.4:p.Glu1158Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2851G>A
  hgvsp: ENSP00000375860.2:p.Glu951Lys
  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.3469G>A
  hgvsp: ENSP00000315609.3:p.Glu1157Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3454G>A
  hgvsp: ENSP00000375861.3:p.Glu1152Lys
  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.3454G>A
  hgvsp: ENSP00000386844.1:p.Glu1152Lys
  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.2251G>A
  hgvsp: ENSP00000418285.1:p.Glu751Lys
  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.3454G>A
  hgvsp: ENSP00000315873.4:p.Glu1152Lys
  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.4072G>A
  hgvsp: ENSP00000295550.4:p.Glu1358Lys
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12399
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu1358Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

2-238280592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280592
    reference: chr 2
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.3465G>A
  hgvsp: ENST00000347401.3:c.3465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2847G>A
  hgvsp: ENST00000392003.2:c.2847G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3450G>A
  hgvsp: ENST00000392004.3:c.3450G>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.3450G>A
  hgvsp: ENST00000409809.1:c.3450G>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.4068G>A
  hgvsp: ENST00000295550.4:c.4068G>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.2247G>A
  hgvsp: ENST00000472056.1:c.2247G>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.3468G>A
  hgvsp: ENST00000346358.4:c.3468G>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.3450G>A
  hgvsp: ENST00000353578.4:c.3450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12382
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala1356Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

2-238280593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280593
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280593
    reference: chr 2
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2246C>T
  hgvsp: ENSP00000418285.1:p.Ala749Val
  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.3467C>T
  hgvsp: ENSP00000295546.4:p.Ala1156Val
  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.3449C>T
  hgvsp: ENSP00000315873.4:p.Ala1150Val
  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.3449C>T
  hgvsp: ENSP00000386844.1:p.Ala1150Val
  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.3464C>T
  hgvsp: ENSP00000315609.3:p.Ala1155Val
  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.4067C>T
  hgvsp: ENSP00000295550.4:p.Ala1356Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2846C>T
  hgvsp: ENSP00000375860.2:p.Ala949Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3449C>T
  hgvsp: ENSP00000375861.3:p.Ala1150Val
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1356Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-238280594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280594
    reference: chr 2
allele count: 8
allele frequency: 6.619776582540339e-5
allele num: 120850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3448G>A
  hgvsp: ENSP00000315873.4:p.Ala1150Thr
  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.2245G>A
  hgvsp: ENSP00000418285.1:p.Ala749Thr
  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.3466G>A
  hgvsp: ENSP00000295546.4:p.Ala1156Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2845G>A
  hgvsp: ENSP00000375860.2:p.Ala949Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3448G>A
  hgvsp: ENSP00000375861.3:p.Ala1150Thr
  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.3448G>A
  hgvsp: ENSP00000386844.1:p.Ala1150Thr
  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.3463G>A
  hgvsp: ENSP00000315609.3:p.Ala1155Thr
  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.4066G>A
  hgvsp: ENSP00000295550.4:p.Ala1356Thr
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18750
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1356Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-238280595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280595
    reference: chr 2
allele count: 3
allele frequency: 2.482375136530632e-5
allele num: 120852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2844G>A
  hgvsp: ENST00000392003.2:c.2844G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3447G>A
  hgvsp: ENST00000392004.3:c.3447G>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.2244G>A
  hgvsp: ENST00000472056.1:c.2244G>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.3447G>A
  hgvsp: ENST00000409809.1:c.3447G>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.3447G>A
  hgvsp: ENST00000353578.4:c.3447G>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.3462G>A
  hgvsp: ENST00000347401.3:c.3462G>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.3465G>A
  hgvsp: ENST00000346358.4:c.3465G>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.4065G>A
  hgvsp: ENST00000295550.4:c.4065G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1355Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS

2-238280596-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280596
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280596
    reference: chr 2
allele count: 2
allele frequency: 1.655218074981379e-5
allele num: 120830
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.3464C>T
  hgvsp: ENSP00000295546.4:p.Pro1155Leu
  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.4064C>T
  hgvsp: ENSP00000295550.4:p.Pro1355Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2843C>T
  hgvsp: ENSP00000375860.2:p.Pro948Leu
  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.2243C>T
  hgvsp: ENSP00000418285.1:p.Pro748Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3446C>T
  hgvsp: ENSP00000375861.3:p.Pro1149Leu
  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.3446C>T
  hgvsp: ENSP00000315873.4:p.Pro1149Leu
  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.3446C>T
  hgvsp: ENSP00000386844.1:p.Pro1149Leu
  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.3461C>T
  hgvsp: ENSP00000315609.3:p.Pro1154Leu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro1355Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

2-238280600-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280600
    reference: chr 2
allele count: 2
allele frequency: 1.655656550605143e-5
allele num: 120798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.3460G>C
  hgvsp: ENSP00000295546.4:p.Asp1154His
  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.3442G>C
  hgvsp: ENSP00000386844.1:p.Asp1148His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2839G>C
  hgvsp: ENSP00000375860.2:p.Asp947His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3442G>C
  hgvsp: ENSP00000375861.3:p.Asp1148His
  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.4060G>C
  hgvsp: ENSP00000295550.4:p.Asp1354His
  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.2239G>C
  hgvsp: ENSP00000418285.1:p.Asp747His
  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.3457G>C
  hgvsp: ENSP00000315609.3:p.Asp1153His
  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.3442G>C
  hgvsp: ENSP00000315873.4:p.Asp1148His
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp1354His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-238280601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280601
    reference: chr 2
allele count: 2
allele frequency: 1.655738790648387e-5
allele num: 120792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.3459C>T
  hgvsp: ENST00000346358.4:c.3459C>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.3456C>T
  hgvsp: ENST00000347401.3:c.3456C>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.3441C>T
  hgvsp: ENST00000353578.4:c.3441C>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.3441C>T
  hgvsp: ENST00000409809.1:c.3441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3441C>T
  hgvsp: ENST00000392004.3:c.3441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2838C>T
  hgvsp: ENST00000392003.2:c.2838C>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.4059C>T
  hgvsp: ENST00000295550.4:c.4059C>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.2238C>T
  hgvsp: ENST00000472056.1:c.2238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp1353Asp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-238280612-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280612
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280612
    reference: chr 2
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.3445G>C
  hgvsp: ENSP00000315609.3:p.Asp1149His
  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.3448G>C
  hgvsp: ENSP00000295546.4:p.Asp1150His
  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.3430G>C
  hgvsp: ENSP00000386844.1:p.Asp1144His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2827G>C
  hgvsp: ENSP00000375860.2:p.Asp943His
  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.3430G>C
  hgvsp: ENSP00000315873.4:p.Asp1144His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3430G>C
  hgvsp: ENSP00000375861.3:p.Asp1144His
  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.2227G>C
  hgvsp: ENSP00000418285.1:p.Asp743His
  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.4048G>C
  hgvsp: ENSP00000295550.4:p.Asp1350His
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5008
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp1350His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-238280612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280612
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280612
    reference: chr 2
allele count: 5
allele frequency: 4.142227524273453e-5
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3430G>A
  hgvsp: ENSP00000375861.3:p.Asp1144Asn
  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.3430G>A
  hgvsp: ENSP00000315873.4:p.Asp1144Asn
  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.3448G>A
  hgvsp: ENSP00000295546.4:p.Asp1150Asn
  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.3430G>A
  hgvsp: ENSP00000386844.1:p.Asp1144Asn
  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.3445G>A
  hgvsp: ENSP00000315609.3:p.Asp1149Asn
  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.4048G>A
  hgvsp: ENSP00000295550.4:p.Asp1350Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2827G>A
  hgvsp: ENSP00000375860.2:p.Asp943Asn
  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.2227G>A
  hgvsp: ENSP00000418285.1:p.Asp743Asn
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp1350Asn
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-238280613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280613
    reference: chr 2
allele count: 41
allele frequency: 3.397302045010109e-4
allele num: 120684
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.3444C>T
  hgvsp: ENST00000347401.3:c.3444C>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.2226C>T
  hgvsp: ENST00000472056.1:c.2226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2826C>T
  hgvsp: ENST00000392003.2:c.2826C>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.3429C>T
  hgvsp: ENST00000353578.4:c.3429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3429C>T
  hgvsp: ENST00000392004.3:c.3429C>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.3447C>T
  hgvsp: ENST00000346358.4:c.3447C>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.4047C>T
  hgvsp: ENST00000295550.4:c.4047C>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.3429C>T
  hgvsp: ENST00000409809.1:c.3429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1349Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-238280613-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280613
    reference: chr 2
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
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.3447C>A
  hgvsp: ENSP00000295546.4:p.Asp1149Glu
  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.2226C>A
  hgvsp: ENSP00000418285.1:p.Asp742Glu
  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.3444C>A
  hgvsp: ENSP00000315609.3:p.Asp1148Glu
  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.4047C>A
  hgvsp: ENSP00000295550.4:p.Asp1349Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2826C>A
  hgvsp: ENSP00000375860.2:p.Asp942Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3429C>A
  hgvsp: ENSP00000375861.3:p.Asp1143Glu
  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.3429C>A
  hgvsp: ENSP00000386844.1:p.Asp1143Glu
  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.3429C>A
  hgvsp: ENSP00000315873.4:p.Asp1143Glu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12366
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp1349Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-238280615-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280615
    reference: chr 2
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
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.3427G>T
  hgvsp: ENSP00000386844.1:p.Asp1143Tyr
  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.4045G>T
  hgvsp: ENSP00000295550.4:p.Asp1349Tyr
  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.2224G>T
  hgvsp: ENSP00000418285.1:p.Asp742Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2824G>T
  hgvsp: ENSP00000375860.2:p.Asp942Tyr
  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.3445G>T
  hgvsp: ENSP00000295546.4:p.Asp1149Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3427G>T
  hgvsp: ENSP00000375861.3:p.Asp1143Tyr
  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.3427G>T
  hgvsp: ENSP00000315873.4:p.Asp1143Tyr
  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.3442G>T
  hgvsp: ENSP00000315609.3:p.Asp1148Tyr
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp1349Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/2-238280619-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280619
    reference: chr 2
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2820G>T
  hgvsp: ENSP00000375860.2:p.Lys940Asn
  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.3423G>T
  hgvsp: ENSP00000315873.4:p.Lys1141Asn
  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.3438G>T
  hgvsp: ENSP00000315609.3:p.Lys1146Asn
  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.4041G>T
  hgvsp: ENSP00000295550.4:p.Lys1347Asn
  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.3423G>T
  hgvsp: ENSP00000386844.1:p.Lys1141Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3423G>T
  hgvsp: ENSP00000375861.3:p.Lys1141Asn
  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.2220G>T
  hgvsp: ENSP00000418285.1:p.Lys740Asn
  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.3441G>T
  hgvsp: ENSP00000295546.4:p.Lys1147Asn
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys1347Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-238280619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280619
    reference: chr 2
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2820G>A
  hgvsp: ENST00000392003.2:c.2820G>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.3423G>A
  hgvsp: ENST00000353578.4:c.3423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3423G>A
  hgvsp: ENST00000392004.3:c.3423G>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.3441G>A
  hgvsp: ENST00000346358.4:c.3441G>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.3438G>A
  hgvsp: ENST00000347401.3:c.3438G>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.2220G>A
  hgvsp: ENST00000472056.1:c.2220G>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.3423G>A
  hgvsp: ENST00000409809.1:c.3423G>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.4041G>A
  hgvsp: ENST00000295550.4:c.4041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys1347Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-238280622-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280622
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280622
    reference: chr 2
allele count: 2
allele frequency: 1.657852417977751e-5
allele num: 120638
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.4038A>C
  hgvsp: ENST00000295550.4:c.4038A>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.2217A>C
  hgvsp: ENST00000472056.1:c.2217A>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.3435A>C
  hgvsp: ENST00000347401.3:c.3435A>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.3420A>C
  hgvsp: ENST00000409809.1:c.3420A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2817A>C
  hgvsp: ENST00000392003.2:c.2817A>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.3438A>C
  hgvsp: ENST00000346358.4:c.3438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3420A>C
  hgvsp: ENST00000392004.3:c.3420A>C(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.3420A>C
  hgvsp: ENST00000353578.4:c.3420A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly1346Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-238280628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280628
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280628
    reference: chr 2
allele count: 50
allele frequency: 4.14765657403567e-4
allele num: 120550
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.3414G>A
  hgvsp: ENST00000409809.1:c.3414G>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.3429G>A
  hgvsp: ENST00000347401.3:c.3429G>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.2211G>A
  hgvsp: ENST00000472056.1:c.2211G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3414G>A
  hgvsp: ENST00000392004.3:c.3414G>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.3432G>A
  hgvsp: ENST00000346358.4:c.3432G>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.4032G>A
  hgvsp: ENST00000295550.4:c.4032G>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.3414G>A
  hgvsp: ENST00000353578.4:c.3414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2811G>A
  hgvsp: ENST00000392003.2:c.2811G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11581
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13299
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17781
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser1344Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-238280636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280636
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280636
    reference: chr 2
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2203C>T
  hgvsp: ENSP00000418285.1:p.Leu735Phe
  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.3424C>T
  hgvsp: ENSP00000295546.4:p.Leu1142Phe
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3406C>T
  hgvsp: ENSP00000375861.3:p.Leu1136Phe
  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.3406C>T
  hgvsp: ENSP00000386844.1:p.Leu1136Phe
  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.4024C>T
  hgvsp: ENSP00000295550.4:p.Leu1342Phe
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2803C>T
  hgvsp: ENSP00000375860.2:p.Leu935Phe
  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.3421C>T
  hgvsp: ENSP00000315609.3:p.Leu1141Phe
  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.3406C>T
  hgvsp: ENSP00000315873.4:p.Leu1136Phe
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4864
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1342Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

2-238280642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280642
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280642
    reference: chr 2
allele count: 4
allele frequency: 3.322203950100497e-5
allele num: 120402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.4018C>T
  hgvsp: ENST00000295550.4:c.4018C>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.3400C>T
  hgvsp: ENST00000353578.4:c.3400C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3400C>T
  hgvsp: ENST00000392004.3:c.3400C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2797C>T
  hgvsp: ENST00000392003.2:c.2797C>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.3400C>T
  hgvsp: ENST00000409809.1:c.3400C>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.3418C>T
  hgvsp: ENST00000346358.4:c.3418C>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.3415C>T
  hgvsp: ENST00000347401.3:c.3415C>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.2197C>T
  hgvsp: ENST00000472056.1:c.2197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10981
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1340Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

2-238280643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280643
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280643
    reference: chr 2
allele count: 2
allele frequency: 1.661074382910867e-5
allele num: 120404
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.3399C>T
  hgvsp: ENST00000409809.1:c.3399C>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.3417C>T
  hgvsp: ENST00000346358.4:c.3417C>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.2196C>T
  hgvsp: ENST00000472056.1:c.2196C>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.3414C>T
  hgvsp: ENST00000347401.3:c.3414C>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.3399C>T
  hgvsp: ENST00000353578.4:c.3399C>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.4017C>T
  hgvsp: ENST00000295550.4:c.4017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3399C>T
  hgvsp: ENST00000392004.3:c.3399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2796C>T
  hgvsp: ENST00000392003.2:c.2796C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12329
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe1339Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-238280649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280649
    reference: chr 2
allele count: 6
allele frequency: 4.988941180383483e-5
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.3408G>A
  hgvsp: ENST00000347401.3:c.3408G>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.3393G>A
  hgvsp: ENST00000353578.4:c.3393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3393G>A
  hgvsp: ENST00000392004.3:c.3393G>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.3411G>A
  hgvsp: ENST00000346358.4:c.3411G>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.2190G>A
  hgvsp: ENST00000472056.1:c.2190G>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.4011G>A
  hgvsp: ENST00000295550.4:c.4011G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2790G>A
  hgvsp: ENST00000392003.2:c.2790G>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.3393G>A
  hgvsp: ENST00000409809.1:c.3393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10915
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1337Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-238280649-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280649
    reference: chr 2
allele count: 3
allele frequency: 2.494470590191741e-5
allele num: 120266
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.3393G>T
  hgvsp: ENST00000409809.1:c.3393G>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.3411G>T
  hgvsp: ENST00000346358.4:c.3411G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3393G>T
  hgvsp: ENST00000392004.3:c.3393G>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.4011G>T
  hgvsp: ENST00000295550.4:c.4011G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2790G>T
  hgvsp: ENST00000392003.2:c.2790G>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.3393G>T
  hgvsp: ENST00000353578.4:c.3393G>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.2190G>T
  hgvsp: ENST00000472056.1:c.2190G>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.3408G>T
  hgvsp: ENST00000347401.3:c.3408G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12324
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1337Pro
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: C
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-238280650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280650
    reference: chr 2
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
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.3410C>T
  hgvsp: ENSP00000295546.4:p.Pro1137Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2789C>T
  hgvsp: ENSP00000375860.2:p.Pro930Leu
  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.3392C>T
  hgvsp: ENSP00000386844.1:p.Pro1131Leu
  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.3392C>T
  hgvsp: ENSP00000315873.4:p.Pro1131Leu
  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.3407C>T
  hgvsp: ENSP00000315609.3:p.Pro1136Leu
  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.4010C>T
  hgvsp: ENSP00000295550.4:p.Pro1337Leu
  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.2189C>T
  hgvsp: ENSP00000418285.1:p.Pro730Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3392C>T
  hgvsp: ENSP00000375861.3:p.Pro1131Leu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1337Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-238280653-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280653
    reference: chr 2
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.3407T>C
  hgvsp: ENSP00000295546.4:p.Val1136Ala
  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.3389T>C
  hgvsp: ENSP00000315873.4:p.Val1130Ala
  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.3389T>C
  hgvsp: ENSP00000386844.1:p.Val1130Ala
  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.3404T>C
  hgvsp: ENSP00000315609.3:p.Val1135Ala
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3389T>C
  hgvsp: ENSP00000375861.3:p.Val1130Ala
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2786T>C
  hgvsp: ENSP00000375860.2:p.Val929Ala
  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.4007T>C
  hgvsp: ENSP00000295550.4:p.Val1336Ala
  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.2186T>C
  hgvsp: ENSP00000418285.1:p.Val729Ala
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12331
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val1336Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-238280654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280654
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280654
    reference: chr 2
allele count: 68
allele frequency: 5.653475224476222e-4
allele num: 120280
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.3403G>A
  hgvsp: ENSP00000315609.3:p.Val1135Ile
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2785G>A
  hgvsp: ENSP00000375860.2:p.Val929Ile
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3388G>A
  hgvsp: ENSP00000375861.3:p.Val1130Ile
  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.4006G>A
  hgvsp: ENSP00000295550.4:p.Val1336Ile
  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.3388G>A
  hgvsp: ENSP00000386844.1:p.Val1130Ile
  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.3388G>A
  hgvsp: ENSP00000315873.4:p.Val1130Ile
  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.2185G>A
  hgvsp: ENSP00000418285.1:p.Val729Ile
  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.3406G>A
  hgvsp: ENSP00000295546.4:p.Val1136Ile
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12014
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12206
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Val1336Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD

2-238280655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280655
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280655
    reference: chr 2
allele count: 383
allele frequency: 3.185455029359416e-3
allele num: 120234
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.3405C>T
  hgvsp: ENST00000346358.4:c.3405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3387C>T
  hgvsp: ENST00000392004.3:c.3387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2784C>T
  hgvsp: ENST00000392003.2:c.2784C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.3387C>T
  hgvsp: ENST00000409809.1:c.3387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.4005C>T
  hgvsp: ENST00000295550.4:c.4005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3387C>T
  hgvsp: ENST00000353578.4:c.3387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2184C>T
  hgvsp: ENST00000472056.1:c.2184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.3402C>T
  hgvsp: ENST00000347401.3:c.3402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 3.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 4.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 16867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly1335Gly
num of homozygotes: 10
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-238280656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280656
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280656
    reference: chr 2
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2783G>A
  hgvsp: ENSP00000375860.2:p.Gly928Asp
  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.2183G>A
  hgvsp: ENSP00000418285.1:p.Gly728Asp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3386G>A
  hgvsp: ENSP00000375861.3:p.Gly1129Asp
  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.4004G>A
  hgvsp: ENSP00000295550.4:p.Gly1335Asp
  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.3386G>A
  hgvsp: ENSP00000315873.4:p.Gly1129Asp
  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.3404G>A
  hgvsp: ENSP00000295546.4:p.Gly1135Asp
  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.3386G>A
  hgvsp: ENSP00000386844.1:p.Gly1129Asp
  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.3401G>A
  hgvsp: ENSP00000315609.3:p.Gly1134Asp
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1335Asp
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-238280660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280660
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280660
    reference: chr 2
allele count: 1
allele frequency: 8.317806760713336e-6
allele num: 120224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3382G>A
  hgvsp: ENSP00000375861.3:p.Glu1128Lys
  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.3382G>A
  hgvsp: ENSP00000386844.1:p.Glu1128Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2779G>A
  hgvsp: ENSP00000375860.2:p.Glu927Lys
  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.2179G>A
  hgvsp: ENSP00000418285.1:p.Glu727Lys
  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.3382G>A
  hgvsp: ENSP00000315873.4:p.Glu1128Lys
  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.3400G>A
  hgvsp: ENSP00000295546.4:p.Glu1134Lys
  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.4000G>A
  hgvsp: ENSP00000295550.4:p.Glu1334Lys
  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.3397G>A
  hgvsp: ENSP00000315609.3:p.Glu1133Lys
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11986
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17002
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu1334Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/2-238280668-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280668
    reference: chr 2
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
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.3392G>T
  hgvsp: ENSP00000295546.4:p.Arg1131Leu
  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.3389G>T
  hgvsp: ENSP00000315609.3:p.Arg1130Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2771G>T
  hgvsp: ENSP00000375860.2:p.Arg924Leu
  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.3374G>T
  hgvsp: ENSP00000315873.4:p.Arg1125Leu
  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.3992G>T
  hgvsp: ENSP00000295550.4:p.Arg1331Leu
  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.3374G>T
  hgvsp: ENSP00000386844.1:p.Arg1125Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3374G>T
  hgvsp: ENSP00000375861.3:p.Arg1125Leu
  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.2171G>T
  hgvsp: ENSP00000418285.1:p.Arg724Leu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1331Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

2-238280668-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280668
    reference: chr 2
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3374G>C
  hgvsp: ENSP00000315873.4:p.Arg1125Pro
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3374G>C
  hgvsp: ENSP00000375861.3:p.Arg1125Pro
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2771G>C
  hgvsp: ENSP00000375860.2:p.Arg924Pro
  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.3374G>C
  hgvsp: ENSP00000386844.1:p.Arg1125Pro
  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.3389G>C
  hgvsp: ENSP00000315609.3:p.Arg1130Pro
  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.3392G>C
  hgvsp: ENSP00000295546.4:p.Arg1131Pro
  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.2171G>C
  hgvsp: ENSP00000418285.1:p.Arg724Pro
  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.3992G>C
  hgvsp: ENSP00000295550.4:p.Arg1331Pro
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11984
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1331Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

2-238280668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280668
    reference: chr 2
allele count: 24
allele frequency: 1.999833347221065e-4
allele num: 120010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3374G>A
  hgvsp: ENSP00000315873.4:p.Arg1125His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2771G>A
  hgvsp: ENSP00000375860.2:p.Arg924His
  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.3389G>A
  hgvsp: ENSP00000315609.3:p.Arg1130His
  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.3374G>A
  hgvsp: ENSP00000386844.1:p.Arg1125His
  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.3392G>A
  hgvsp: ENSP00000295546.4:p.Arg1131His
  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.2171G>A
  hgvsp: ENSP00000418285.1:p.Arg724His
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3374G>A
  hgvsp: ENSP00000375861.3:p.Arg1125His
  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.3992G>A
  hgvsp: ENSP00000295550.4:p.Arg1331His
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12388
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1331His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-238280669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280669
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280669
    reference: chr 2
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2770C>T
  hgvsp: ENSP00000375860.2:p.Arg924Cys
  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.3373C>T
  hgvsp: ENSP00000386844.1:p.Arg1125Cys
  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.3373C>T
  hgvsp: ENSP00000315873.4:p.Arg1125Cys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3373C>T
  hgvsp: ENSP00000375861.3:p.Arg1125Cys
  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.3391C>T
  hgvsp: ENSP00000295546.4:p.Arg1131Cys
  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.3388C>T
  hgvsp: ENSP00000315609.3:p.Arg1130Cys
  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.3991C>T
  hgvsp: ENSP00000295550.4:p.Arg1331Cys
  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.2170C>T
  hgvsp: ENSP00000418285.1:p.Arg724Cys
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1331Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-238280670-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280670
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280670
    reference: chr 2
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3372C>G
  hgvsp: ENSP00000315873.4:p.Ser1124Arg
  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.2169C>G
  hgvsp: ENSP00000418285.1:p.Ser723Arg
  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.3990C>G
  hgvsp: ENSP00000295550.4:p.Ser1330Arg
  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.3390C>G
  hgvsp: ENSP00000295546.4:p.Ser1130Arg
  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.3372C>G
  hgvsp: ENSP00000386844.1:p.Ser1124Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3372C>G
  hgvsp: ENSP00000375861.3:p.Ser1124Arg
  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.3387C>G
  hgvsp: ENSP00000315609.3:p.Ser1129Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2769C>G
  hgvsp: ENSP00000375860.2:p.Ser923Arg
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12397
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser1330Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-238280671-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280671
    reference: chr 2
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3371G>C
  hgvsp: ENSP00000375861.3:p.Ser1124Thr
  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.3386G>C
  hgvsp: ENSP00000315609.3:p.Ser1129Thr
  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.3989G>C
  hgvsp: ENSP00000295550.4:p.Ser1330Thr
  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.3371G>C
  hgvsp: ENSP00000386844.1:p.Ser1124Thr
  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.2168G>C
  hgvsp: ENSP00000418285.1:p.Ser723Thr
  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.3389G>C
  hgvsp: ENSP00000295546.4:p.Ser1130Thr
  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.3371G>C
  hgvsp: ENSP00000315873.4:p.Ser1124Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2768G>C
  hgvsp: ENSP00000375860.2:p.Ser923Thr
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12403
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser1330Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-238280676-C-CAAGTGCTCCAGTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280690
    reference: chr 2
allele count: 1
allele frequency: 8.333472224537076e-6
allele num: 119998
alternate allele: CAAGTGCTCCAGTTG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsp: ENSP00000295546.4:p.Gly1129AsnfsTer56
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsp: ENSP00000418285.1:p.Gly722AsnfsTer56
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsp: ENSP00000386844.1:p.Gly1123AsnfsTer56
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsp: ENSP00000375861.3:p.Gly1123AsnfsTer56
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsp: ENSP00000315609.3:p.Gly1128AsnfsTer56
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsp: ENSP00000315873.4:p.Gly1123AsnfsTer56
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsp: ENSP00000375860.2:p.Gly922AsnfsTer56
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsp: ENSP00000295550.4:p.Gly1329AsnfsTer56
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7279
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1329AsnfsTer56
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-238280679-G-GTCACTCCATCTGACAAGGTCCCTGTCTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280708
    reference: chr 2
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: GTCACTCCATCTGACAAGGTCCCTGTCTCT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsp: ENSP00000375861.3:p.Leu1122GlufsTer62
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsp: ENSP00000315873.4:p.Leu1122GlufsTer62
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsp: ENSP00000418285.1:p.Leu721GlufsTer62
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsp: ENSP00000386844.1:p.Leu1122GlufsTer62
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsp: ENSP00000295550.4:p.Leu1328GlufsTer62
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsp: ENSP00000315609.3:p.Leu1127GlufsTer62
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsp: ENSP00000295546.4:p.Leu1128GlufsTer62
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsp: ENSP00000375860.2:p.Leu921GlufsTer62
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1328GlufsTer62
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-238280697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280697
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280697
    reference: chr 2
allele count: 6
allele frequency: 4.993840929520258e-5
allele num: 120148
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.3345G>A
  hgvsp: ENST00000409809.1:c.3345G>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.3345G>A
  hgvsp: ENST00000353578.4:c.3345G>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.3363G>A
  hgvsp: ENST00000346358.4:c.3363G>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.2142G>A
  hgvsp: ENST00000472056.1:c.2142G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3345G>A
  hgvsp: ENST00000392004.3:c.3345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2742G>A
  hgvsp: ENST00000392003.2:c.2742G>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.3963G>A
  hgvsp: ENST00000295550.4:c.3963G>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.3360G>A
  hgvsp: ENST00000347401.3:c.3360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12436
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 18783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1321Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-238280706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280706
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280706
    reference: chr 2
allele count: 26
allele frequency: 2.163385531943219e-4
allele num: 120182
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3336C>T
  hgvsp: ENST00000392004.3:c.3336C>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.3954C>T
  hgvsp: ENST00000295550.4:c.3954C>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.2133C>T
  hgvsp: ENST00000472056.1:c.2133C>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.3351C>T
  hgvsp: ENST00000347401.3:c.3351C>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.3354C>T
  hgvsp: ENST00000346358.4:c.3354C>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.3336C>T
  hgvsp: ENST00000409809.1:c.3336C>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: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2733C>T
  hgvsp: ENST00000392003.2:c.2733C>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: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3336C>T
  hgvsp: ENST00000353578.4:c.3336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr1318Tyr
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

2-238280716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280716
    reference: chr 2
allele count: 4
allele frequency: 3.326348002528024e-5
allele num: 120252
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.3326C>T
  hgvsp: ENSP00000386844.1:p.Ala1109Val
  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.2123C>T
  hgvsp: ENSP00000418285.1:p.Ala708Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2723C>T
  hgvsp: ENSP00000375860.2:p.Ala908Val
  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.3341C>T
  hgvsp: ENSP00000315609.3:p.Ala1114Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3326C>T
  hgvsp: ENSP00000375861.3:p.Ala1109Val
  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.3944C>T
  hgvsp: ENSP00000295550.4:p.Ala1315Val
  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.3326C>T
  hgvsp: ENSP00000315873.4:p.Ala1109Val
  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.3344C>T
  hgvsp: ENSP00000295546.4:p.Ala1115Val
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1315Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-238280720-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280720
    reference: chr 2
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3322A>G
  hgvsp: ENSP00000375861.3:p.Asn1108Asp
  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.3337A>G
  hgvsp: ENSP00000315609.3:p.Asn1113Asp
  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.3940A>G
  hgvsp: ENSP00000295550.4:p.Asn1314Asp
  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.2119A>G
  hgvsp: ENSP00000418285.1:p.Asn707Asp
  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.3340A>G
  hgvsp: ENSP00000295546.4:p.Asn1114Asp
  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.3322A>G
  hgvsp: ENSP00000386844.1:p.Asn1108Asp
  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.3322A>G
  hgvsp: ENSP00000315873.4:p.Asn1108Asp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2719A>G
  hgvsp: ENSP00000375860.2:p.Asn907Asp
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12447
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn1314Asp
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-238280721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280721
    reference: chr 2
allele count: 4
allele frequency: 3.325518365175172e-5
allele num: 120282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2118C>T
  hgvsp: ENST00000472056.1:c.2118C>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.3339C>T
  hgvsp: ENST00000346358.4:c.3339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2718C>T
  hgvsp: ENST00000392003.2:c.2718C>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.3321C>T
  hgvsp: ENST00000409809.1:c.3321C>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.3321C>T
  hgvsp: ENST00000353578.4:c.3321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3321C>T
  hgvsp: ENST00000392004.3:c.3321C>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.3939C>T
  hgvsp: ENST00000295550.4:c.3939C>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.3336C>T
  hgvsp: ENST00000347401.3:c.3336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly1313Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-238280724-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280724
    reference: chr 2
allele count: 11
allele frequency: 9.143351121307333e-5
allele num: 120306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3318G>C
  hgvsp: ENST00000392004.3:c.3318G>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.3336G>C
  hgvsp: ENST00000346358.4:c.3336G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2715G>C
  hgvsp: ENST00000392003.2:c.2715G>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.3318G>C
  hgvsp: ENST00000409809.1:c.3318G>C(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.3318G>C
  hgvsp: ENST00000353578.4:c.3318G>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.2115G>C
  hgvsp: ENST00000472056.1:c.2115G>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.3936G>C
  hgvsp: ENST00000295550.4:c.3936G>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.3333G>C
  hgvsp: ENST00000347401.3:c.3333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1312Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-238280726-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280726
    reference: chr 2
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.3934G>T
  hgvsp: ENSP00000295550.4:p.Val1312Leu
  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.3334G>T
  hgvsp: ENSP00000295546.4:p.Val1112Leu
  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.3331G>T
  hgvsp: ENSP00000315609.3:p.Val1111Leu
  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.2113G>T
  hgvsp: ENSP00000418285.1:p.Val705Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2713G>T
  hgvsp: ENSP00000375860.2:p.Val905Leu
  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.3316G>T
  hgvsp: ENSP00000386844.1:p.Val1106Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3316G>T
  hgvsp: ENSP00000375861.3:p.Val1106Leu
  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.3316G>T
  hgvsp: ENSP00000315873.4:p.Val1106Leu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val1312Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-238280726-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280726
    reference: chr 2
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.3334G>C
  hgvsp: ENSP00000295546.4:p.Val1112Leu
  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.2113G>C
  hgvsp: ENSP00000418285.1:p.Val705Leu
  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.3316G>C
  hgvsp: ENSP00000315873.4:p.Val1106Leu
  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.3316G>C
  hgvsp: ENSP00000386844.1:p.Val1106Leu
  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.3934G>C
  hgvsp: ENSP00000295550.4:p.Val1312Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2713G>C
  hgvsp: ENSP00000375860.2:p.Val905Leu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3316G>C
  hgvsp: ENSP00000375861.3:p.Val1106Leu
  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.3331G>C
  hgvsp: ENSP00000315609.3:p.Val1111Leu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1312Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-238280726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280726
    reference: chr 2
allele count: 7
allele frequency: 5.819270097264943e-5
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3316G>A
  hgvsp: ENSP00000315873.4:p.Val1106Met
  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.2113G>A
  hgvsp: ENSP00000418285.1:p.Val705Met
  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.3316G>A
  hgvsp: ENSP00000386844.1:p.Val1106Met
  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.3331G>A
  hgvsp: ENSP00000315609.3:p.Val1111Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2713G>A
  hgvsp: ENSP00000375860.2:p.Val905Met
  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.3334G>A
  hgvsp: ENSP00000295546.4:p.Val1112Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3316G>A
  hgvsp: ENSP00000375861.3:p.Val1106Met
  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.3934G>A
  hgvsp: ENSP00000295550.4:p.Val1312Met
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val1312Met
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-238280727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280727
    reference: chr 2
allele count: 4
allele frequency: 3.325407778128793e-5
allele num: 120286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.3933C>T
  hgvsp: ENST00000295550.4:c.3933C>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.3315C>T
  hgvsp: ENST00000409809.1:c.3315C>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.3333C>T
  hgvsp: ENST00000346358.4:c.3333C>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.3330C>T
  hgvsp: ENST00000347401.3:c.3330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3315C>T
  hgvsp: ENST00000392004.3:c.3315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2712C>T
  hgvsp: ENST00000392003.2:c.2712C>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.3315C>T
  hgvsp: ENST00000353578.4:c.3315C>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.2112C>T
  hgvsp: ENST00000472056.1:c.2112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn1311Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-238280728-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280728
    reference: chr 2
allele count: 6
allele frequency: 4.987448255224352e-5
allele num: 120302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.3314A>G
  hgvsp: ENSP00000386844.1:p.Asn1105Ser
  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.3329A>G
  hgvsp: ENSP00000315609.3:p.Asn1110Ser
  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.3932A>G
  hgvsp: ENSP00000295550.4:p.Asn1311Ser
  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.3332A>G
  hgvsp: ENSP00000295546.4:p.Asn1111Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3314A>G
  hgvsp: ENSP00000375861.3:p.Asn1105Ser
  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.2111A>G
  hgvsp: ENSP00000418285.1:p.Asn704Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2711A>G
  hgvsp: ENSP00000375860.2:p.Asn904Ser
  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.3314A>G
  hgvsp: ENSP00000315873.4:p.Asn1105Ser
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12812
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn1311Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-238280737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280737
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280737
    reference: chr 2
allele count: 11
allele frequency: 9.142895139304476e-5
allele num: 120312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2102G>A
  hgvsp: ENSP00000418285.1:p.Arg701Gln
  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.3305G>A
  hgvsp: ENSP00000315873.4:p.Arg1102Gln
  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.3305G>A
  hgvsp: ENSP00000386844.1:p.Arg1102Gln
  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.3923G>A
  hgvsp: ENSP00000295550.4:p.Arg1308Gln
  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.3323G>A
  hgvsp: ENSP00000295546.4:p.Arg1108Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3305G>A
  hgvsp: ENSP00000375861.3:p.Arg1102Gln
  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.3320G>A
  hgvsp: ENSP00000315609.3:p.Arg1107Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2702G>A
  hgvsp: ENSP00000375860.2:p.Arg901Gln
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg1308Gln
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

2-238280738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280738
    reference: chr 2
allele count: 3
allele frequency: 2.493143854400399e-5
allele num: 120330
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.3322C>T
  hgvsp: ENSP00000295546.4:p.Arg1108Trp
  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.3922C>T
  hgvsp: ENSP00000295550.4:p.Arg1308Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3304C>T
  hgvsp: ENSP00000375861.3:p.Arg1102Trp
  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.2101C>T
  hgvsp: ENSP00000418285.1:p.Arg701Trp
  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.3304C>T
  hgvsp: ENSP00000386844.1:p.Arg1102Trp
  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.3304C>T
  hgvsp: ENSP00000315873.4:p.Arg1102Trp
  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.3319C>T
  hgvsp: ENSP00000315609.3:p.Arg1107Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2701C>T
  hgvsp: ENSP00000375860.2:p.Arg901Trp
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1308Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-238280745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280745
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280745
    reference: chr 2
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
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.3297G>A
  hgvsp: ENST00000409809.1:c.3297G>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.2094G>A
  hgvsp: ENST00000472056.1:c.2094G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2694G>A
  hgvsp: ENST00000392003.2:c.2694G>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.3315G>A
  hgvsp: ENST00000346358.4:c.3315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3297G>A
  hgvsp: ENST00000392004.3:c.3297G>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.3915G>A
  hgvsp: ENST00000295550.4:c.3915G>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.3297G>A
  hgvsp: ENST00000353578.4:c.3297G>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.3312G>A
  hgvsp: ENST00000347401.3:c.3312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys1305Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-238280746-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280746
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280746
    reference: chr 2
allele count: 3
allele frequency: 2.492895248541656e-5
allele num: 120342
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.3311A>G
  hgvsp: ENSP00000315609.3:p.Lys1104Arg
  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.3296A>G
  hgvsp: ENSP00000315873.4:p.Lys1099Arg
  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.3314A>G
  hgvsp: ENSP00000295546.4:p.Lys1105Arg
  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.3914A>G
  hgvsp: ENSP00000295550.4:p.Lys1305Arg
  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.2093A>G
  hgvsp: ENSP00000418285.1:p.Lys698Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3296A>G
  hgvsp: ENSP00000375861.3:p.Lys1099Arg
  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.3296A>G
  hgvsp: ENSP00000386844.1:p.Lys1099Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2693A>G
  hgvsp: ENSP00000375860.2:p.Lys898Arg
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1305Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-238280747-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280747
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280747
    reference: chr 2
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.3295A>G
  hgvsp: ENSP00000315873.4:p.Lys1099Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3295A>G
  hgvsp: ENSP00000375861.3:p.Lys1099Glu
  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.3310A>G
  hgvsp: ENSP00000315609.3:p.Lys1104Glu
  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.3295A>G
  hgvsp: ENSP00000386844.1:p.Lys1099Glu
  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.3313A>G
  hgvsp: ENSP00000295546.4:p.Lys1105Glu
  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.3913A>G
  hgvsp: ENSP00000295550.4:p.Lys1305Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2692A>G
  hgvsp: ENSP00000375860.2:p.Lys898Glu
  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.2092A>G
  hgvsp: ENSP00000418285.1:p.Lys698Glu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1305Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-238280752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280752
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280752
    reference: chr 2
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3290G>A
  hgvsp: ENSP00000375861.3:p.Arg1097Lys
  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.3908G>A
  hgvsp: ENSP00000295550.4:p.Arg1303Lys
  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.3308G>A
  hgvsp: ENSP00000295546.4:p.Arg1103Lys
  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.3290G>A
  hgvsp: ENSP00000386844.1:p.Arg1097Lys
  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.2087G>A
  hgvsp: ENSP00000418285.1:p.Arg696Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2687G>A
  hgvsp: ENSP00000375860.2:p.Arg896Lys
  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.3305G>A
  hgvsp: ENSP00000315609.3:p.Arg1102Lys
  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.3290G>A
  hgvsp: ENSP00000315873.4:p.Arg1097Lys
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1303Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-238280756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280756
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280756
    reference: chr 2
allele count: 2
allele frequency: 1.661295145695584e-5
allele num: 120388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.3904C>T
  hgvsp: ENST00000295550.4:c.3904C>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.3301C>T
  hgvsp: ENST00000347401.3:c.3301C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3286C>T
  hgvsp: ENST00000392004.3:c.3286C>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.3286C>T
  hgvsp: ENST00000409809.1:c.3286C>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.3286C>T
  hgvsp: ENST00000353578.4:c.3286C>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.2083C>T
  hgvsp: ENST00000472056.1:c.2083C>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.3304C>T
  hgvsp: ENST00000346358.4:c.3304C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2683C>T
  hgvsp: ENST00000392003.2:c.2683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12458
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5181
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1302Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-238280758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280758
    reference: chr 2
allele count: 32
allele frequency: 2.658867322520606e-4
allele num: 120352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3284G>A
  hgvsp: ENSP00000375861.3:p.Arg1095Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2681G>A
  hgvsp: ENSP00000375860.2:p.Arg894Gln
  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.2081G>A
  hgvsp: ENSP00000418285.1:p.Arg694Gln
  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.3284G>A
  hgvsp: ENSP00000315873.4:p.Arg1095Gln
  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.3284G>A
  hgvsp: ENSP00000386844.1:p.Arg1095Gln
  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.3302G>A
  hgvsp: ENSP00000295546.4:p.Arg1101Gln
  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.3902G>A
  hgvsp: ENSP00000295550.4:p.Arg1301Gln
  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.3299G>A
  hgvsp: ENSP00000315609.3:p.Arg1100Gln
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12656
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1301Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

2-238280759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280759
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280759
    reference: chr 2
allele count: 6
allele frequency: 4.9841338406074e-5
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.3901C>T
  hgvsp: ENSP00000295550.4:p.Arg1301Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2680C>T
  hgvsp: ENSP00000375860.2:p.Arg894Trp
  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.2080C>T
  hgvsp: ENSP00000418285.1:p.Arg694Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3283C>T
  hgvsp: ENSP00000375861.3:p.Arg1095Trp
  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.3298C>T
  hgvsp: ENSP00000315609.3:p.Arg1100Trp
  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.3283C>T
  hgvsp: ENSP00000315873.4:p.Arg1095Trp
  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.3301C>T
  hgvsp: ENSP00000295546.4:p.Arg1101Trp
  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.3283C>T
  hgvsp: ENSP00000386844.1:p.Arg1095Trp
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1301Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-238280764-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280764
    reference: chr 2
allele count: 3
allele frequency: 2.490494612229989e-5
allele num: 120458
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.3896T>G
  hgvsp: ENSP00000295550.4:p.Val1299Gly
  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.3293T>G
  hgvsp: ENSP00000315609.3:p.Val1098Gly
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3278T>G
  hgvsp: ENSP00000375861.3:p.Val1093Gly
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2675T>G
  hgvsp: ENSP00000375860.2:p.Val892Gly
  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.3296T>G
  hgvsp: ENSP00000295546.4:p.Val1099Gly
  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.2075T>G
  hgvsp: ENSP00000418285.1:p.Val692Gly
  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.3278T>G
  hgvsp: ENSP00000386844.1:p.Val1093Gly
  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.3278T>G
  hgvsp: ENSP00000315873.4:p.Val1093Gly
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1299Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

2-238280764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280764
    reference: chr 2
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3278T>C
  hgvsp: ENSP00000375861.3:p.Val1093Ala
  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.3278T>C
  hgvsp: ENSP00000315873.4:p.Val1093Ala
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2675T>C
  hgvsp: ENSP00000375860.2:p.Val892Ala
  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.3296T>C
  hgvsp: ENSP00000295546.4:p.Val1099Ala
  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.2075T>C
  hgvsp: ENSP00000418285.1:p.Val692Ala
  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.3896T>C
  hgvsp: ENSP00000295550.4:p.Val1299Ala
  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.3293T>C
  hgvsp: ENSP00000315609.3:p.Val1098Ala
  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.3278T>C
  hgvsp: ENSP00000386844.1:p.Val1093Ala
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4379
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val1299Ala
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

2-238280766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280766
    reference: chr 2
allele count: 4
allele frequency: 3.320659482973319e-5
allele num: 120458
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.2073G>A
  hgvsp: ENST00000472056.1:c.2073G>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.3294G>A
  hgvsp: ENST00000346358.4:c.3294G>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.3276G>A
  hgvsp: ENST00000409809.1:c.3276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2673G>A
  hgvsp: ENST00000392003.2:c.2673G>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.3276G>A
  hgvsp: ENST00000353578.4:c.3276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3276G>A
  hgvsp: ENST00000392004.3:c.3276G>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.3291G>A
  hgvsp: ENST00000347401.3:c.3291G>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.3894G>A
  hgvsp: ENST00000295550.4:c.3894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8350
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7614
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1298Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-238280767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280767
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280767
    reference: chr 2
allele count: 4
allele frequency: 3.32021847037535e-5
allele num: 120474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2072C>T
  hgvsp: ENSP00000418285.1:p.Ala691Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3275C>T
  hgvsp: ENSP00000375861.3:p.Ala1092Val
  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.3893C>T
  hgvsp: ENSP00000295550.4:p.Ala1298Val
  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.3275C>T
  hgvsp: ENSP00000315873.4:p.Ala1092Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2672C>T
  hgvsp: ENSP00000375860.2:p.Ala891Val
  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.3293C>T
  hgvsp: ENSP00000295546.4:p.Ala1098Val
  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.3275C>T
  hgvsp: ENSP00000386844.1:p.Ala1092Val
  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.3290C>T
  hgvsp: ENSP00000315609.3:p.Ala1097Val
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala1298Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-238280768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238280768
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238280768
    reference: chr 2
allele count: 3
allele frequency: 2.489957172736629e-5
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.2071G>A
  hgvsp: ENSP00000418285.1:p.Ala691Thr
  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.3292G>A
  hgvsp: ENSP00000295546.4:p.Ala1098Thr
  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.3274G>A
  hgvsp: ENSP00000386844.1:p.Ala1092Thr
  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.3274G>A
  hgvsp: ENSP00000315873.4:p.Ala1092Thr
  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.3892G>A
  hgvsp: ENSP00000295550.4:p.Ala1298Thr
  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.3289G>A
  hgvsp: ENSP00000315609.3:p.Ala1097Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.3274G>A
  hgvsp: ENSP00000375861.3:p.Ala1092Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.2671G>A
  hgvsp: ENSP00000375860.2:p.Ala891Thr
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ala1298Thr
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2616
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12682
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3085
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5214
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 2.017109e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.107e1

FS
type: SiteQuality
SIO_000300: 4.64e0

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12918
bin: 9.75e1
variant carriers: 654

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

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7955
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5192
bin: 7.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 4387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4348
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 537
allele frequency: 8.065242858430206e-3
allele num: 66582
num of homozygotes: 1

African
type: Population
allele count: 20
allele frequency: 1.92789666473877e-3
allele num: 10374
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.420470262793914e-3
allele num: 11568
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.026634382566586e-3
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 49
allele frequency: 2.967538759689923e-3
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

DP
type: SiteQuality
SIO_000300: 2.035578e6

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3065
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7955
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 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: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.344e1

DP
type: SiteQuality
SIO_000300: 2.035578e6

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

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

African
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allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.507e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: -1.627e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 1.1344e1

DP
type: SiteQuality
SIO_000300: 2.011637e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.858142818517739e-4
allele num: 66574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.643e0

QD
type: SiteQuality
SIO_000300: 1.368e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

DP
type: SiteQuality
SIO_000300: 2.012239e6

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 906
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: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.015e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

DP
type: SiteQuality
SIO_000300: 2.00937e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.747e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

FS
type: SiteQuality
SIO_000300: 3.292e0

QD
type: SiteQuality
SIO_000300: 1.389e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

African
type: Population
allele count: 47
allele frequency: 4.531430775163903e-3
allele num: 10372
num of homozygotes: 1

Latino
type: Population
allele count: 3
allele frequency: 2.594258042199931e-4
allele num: 11564
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.179e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 2.007493e6

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.84e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.017933441656135e-5
allele num: 66468
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 8638
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

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

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

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

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

South Asian
type: Population
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East Asian
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allele frequency: 1.158211721102618e-4
allele num: 8634
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.213e0

DP
type: SiteQuality
SIO_000300: 2.002576e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9
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GenotypeQuality
all individuals: 570
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South Asian
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.731301939058172e-4
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Other
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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African
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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Latino
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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South Asian
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African
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East Asian
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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FS
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66332
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African
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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South Asian
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ReadPosRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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Latino
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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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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South Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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Other
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East Asian
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 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: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.039559112184811e-5
allele num: 66230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.980606e6

FS
type: SiteQuality
SIO_000300: 1.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.388e1

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 41

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

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

African
type: Population
allele count: 3
allele frequency: 2.901353965183752e-4
allele num: 10340
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 35
allele frequency: 5.286050866912342e-4
allele num: 66212
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.33e1

DP
type: SiteQuality
SIO_000300: 1.980357e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66212
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

DP
type: SiteQuality
SIO_000300: 1.980357e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.723e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 7.401e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

DP
type: SiteQuality
SIO_000300: 1.974141e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.101e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.035e1

VQSLOD
type: SiteQuality
SIO_000300: -2.065e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510574018126888e-5
allele num: 66200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.409e0

DP
type: SiteQuality
SIO_000300: 1.973337e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.65e0

QD
type: SiteQuality
SIO_000300: 1.018e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510574018126888e-5
allele num: 66200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 1.973337e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
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: 2
allele frequency: 1.936858415649816e-4
allele num: 10326
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-1

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 50

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

African
type: Population
allele count: 3
allele frequency: 2.906976744186046e-4
allele num: 10320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
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: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 42
allele frequency: 2.546998180715585e-3
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.049057859238423e-5
allele num: 66126
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.522533495736906e-4
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 66088
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.155e1

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

DP
type: SiteQuality
SIO_000300: 1.959637e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

FS
type: SiteQuality
SIO_000300: 1.271e0

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.916e0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66044
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.885758694385079e-4
allele num: 10294
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: 6564
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.952333e6

VQSLOD
type: SiteQuality
SIO_000300: 5.43e0

QD
type: SiteQuality
SIO_000300: 1.483e1

GenotypeQuality
all individuals: 548
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513958699206686e-5
allele num: 66052
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e0

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

FS
type: SiteQuality
SIO_000300: 4.988e0

DP
type: SiteQuality
SIO_000300: 1.952376e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 6.74e0

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 1325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4056
bin: 7.25e1
variant carriers: 0

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: 11
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12326
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.921129503407984e-4
allele num: 10270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032140691328078e-5
allele num: 65960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.949918e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

QD
type: SiteQuality
SIO_000300: 1.361e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4184
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4056
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 794
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12326
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3025
bin: 9.25e1
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: 8596
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032140691328078e-5
allele num: 65960
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.361e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.949918e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

GenotypeQuality
all individuals: 16739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 3029
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GenotypeQuality
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GenotypeQuality
all individuals: 641
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variant carriers: 0

GenotypeQuality
all individuals: 4079
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variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 1.949762e6

FS
type: SiteQuality
SIO_000300: 1.388e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
all individuals: 3043
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 4216
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variant carriers: 0

GenotypeQuality
all individuals: 597
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GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 809
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variant carriers: 0

GenotypeQuality
all individuals: 7080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.948564e6

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

FS
type: SiteQuality
SIO_000300: 6.612e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.325e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

GenotypeQuality
all individuals: 1363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4902
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variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
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variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
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GenotypeQuality
all individuals: 401
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GenotypeQuality
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GenotypeQuality
all individuals: 634
bin: 4.75e1
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GenotypeQuality
all individuals: 7043
bin: 6.75e1
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GenotypeQuality
all individuals: 12365
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 821
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 64
allele frequency: 5.556520229206459e-3
allele num: 11518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819946614899296e-4
allele num: 16484
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.949202e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

GenotypeQuality
all individuals: 2561
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 458
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7015
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 1.25e1
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GenotypeQuality
all individuals: 12626
bin: 9.75e1
variant carriers: 369

GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 742
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4197
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4869
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 479
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.640334910811795e-4
allele num: 16482
num of homozygotes: 0

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

Latino
type: Population
allele count: 13
allele frequency: 1.128668171557562e-3
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 360
allele frequency: 3.506721215663355e-2
allele num: 10266
num of homozygotes: 10

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.95377e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

QD
type: SiteQuality
SIO_000300: 1.407e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.17e-2

GenotypeQuality
all individuals: 1375
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4912
bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.985e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

DP
type: SiteQuality
SIO_000300: 1.951867e6

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.846e0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517174414370676e-5
allele num: 65912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.417e0

VQSLOD
type: SiteQuality
SIO_000300: -1.553e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
type: SiteQuality
SIO_000300: 8.67e0

MQ
type: SiteQuality
SIO_000300: 5.704e1

FS
type: SiteQuality
SIO_000300: 6.415e0

DP
type: SiteQuality
SIO_000300: 1.953241e6

GenotypeQuality
all individuals: 551
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
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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: 0

GenotypeQuality
all individuals: 380
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519756838905775e-5
allele num: 65800
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.399e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.518e0

FS
type: SiteQuality
SIO_000300: 1.205e0

DP
type: SiteQuality
SIO_000300: 1.957978e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

GenotypeQuality
all individuals: 680
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65800
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.399e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.518e0

DP
type: SiteQuality
SIO_000300: 1.957978e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

FS
type: SiteQuality
SIO_000300: 1.205e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65800
num of homozygotes: 0

East Asian
type: Population
allele count: 24
allele frequency: 2.791346824842987e-3
allele num: 8598
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.518e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

DP
type: SiteQuality
SIO_000300: 1.957978e6

QD
type: SiteQuality
SIO_000300: 1.399e1

FS
type: SiteQuality
SIO_000300: 1.205e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5016
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4282
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
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: 65776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.958045e6

MQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 1.629e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.128e1

GenotypeQuality
all individuals: 5020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7190
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519572088499878e-5
allele num: 65808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
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: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.958956e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

FS
type: SiteQuality
SIO_000300: 2.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2601
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519156564275514e-5
allele num: 65826
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.280999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.959769e6

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 4.836e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.793e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.487e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
all individuals: 4326
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.964419e6

MQRankSum
type: SiteQuality
SIO_000300: -5.872e0

FS
type: SiteQuality
SIO_000300: 1.09897e2

MQ
type: SiteQuality
SIO_000300: 4.184e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

VQSLOD
type: SiteQuality
SIO_000300: -1.313e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 5.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 2622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7344
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17898
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12422
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65782
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.941e0

FS
type: SiteQuality
SIO_000300: 1.08958e2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 4.071e1

VQSLOD
type: SiteQuality
SIO_000300: -1.459e1

QD
type: SiteQuality
SIO_000300: 2.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.966545e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4362
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.963788300835655e-4
allele num: 8616
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

FS
type: SiteQuality
SIO_000300: 1.184e0

DP
type: SiteQuality
SIO_000300: 1.975858e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.942e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.056e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeQuality
all individuals: 5155
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12454
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4346
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 9.25e1
variant carriers: 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: 8
allele frequency: 1.21447656060238e-4
allele num: 65872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.825112988799372e-5
allele num: 10178
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.386481802426343e-3
allele num: 11540
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 1.979283e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 1.977e0

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 5161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12449
bin: 9.75e1
variant carriers: 4

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.069065970747102e-5
allele num: 65908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
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: 1.9154e1

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.982133e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.471e0

QD
type: SiteQuality
SIO_000300: 1.017e1

VQSLOD
type: SiteQuality
SIO_000300: -3.006e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.84e-1

GenotypeQuality
all individuals: 824
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4374
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 237
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variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65926
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.982402e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.06e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 2.338e0

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12450
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7550
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19265
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.983017e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.774e0

FS
type: SiteQuality
SIO_000300: 2.244e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
all individuals: 2645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12452
bin: 9.75e1
variant carriers: 11

Latino
type: Population
allele count: 10
allele frequency: 8.658008658008658e-4
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.983338e6

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

QD
type: SiteQuality
SIO_000300: 1.006e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2646
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5171
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12452
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

DP
type: SiteQuality
SIO_000300: 1.983804e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

QD
type: SiteQuality
SIO_000300: 1.052e1

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2646
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12452
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516806212838248e-5
allele num: 65928
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.983804e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

QD
type: SiteQuality
SIO_000300: 1.052e1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2646
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.897159647404506e-4
allele num: 10210
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: 1
allele frequency: 1.516806212838248e-5
allele num: 65928
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

DP
type: SiteQuality
SIO_000300: 1.983804e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 800
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517036317849449e-5
allele num: 65918
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.983899e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.821e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

GenotypeQuality
all individuals: 12452
bin: 9.75e1
variant carriers: 6

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 216
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variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.796238244514106e-5
allele num: 10208
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.642525533890436e-4
allele num: 8616
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: 1.313e1

FS
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.983556e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
all individuals: 818
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

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: 86
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variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.846722403974312e-4
allele num: 16506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 3
allele frequency: 4.549866537248241e-5
allele num: 65936
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.984522e6

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

MQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5169
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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: 3

GenotypeQuality
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GenotypeQuality
all individuals: 3117
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variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
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: 1
allele frequency: 1.516208266367468e-5
allele num: 65954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.984289e6

MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 243
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.984701e6

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

FS
type: SiteQuality
SIO_000300: 4.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.817e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 2.103e1

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.547521600727603e-5
allele num: 65970
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.984806e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.995e0

QD
type: SiteQuality
SIO_000300: 1.252e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
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bin: 7.25e1
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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
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GenotypeQuality
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GenotypeQuality
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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: 4379
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.97e-1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.006e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

DP
type: SiteQuality
SIO_000300: 1.984832e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.13e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
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GenotypeQuality
all individuals: 91
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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: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515381118351265e-5
allele num: 65990
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 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: 6598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.452e0

QD
type: SiteQuality
SIO_000300: 1.408e1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

DP
type: SiteQuality
SIO_000300: 1.985326e6

FS
type: SiteQuality
SIO_000300: 2.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.436e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19250
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029752166272799e-5
allele num: 66012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
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: 8618
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.985701e6

VQSLOD
type: SiteQuality
SIO_000300: -6.153e-1

FS
type: SiteQuality
SIO_000300: 1.945e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.232e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
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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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 32

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7574
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.329004329004329e-4
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.569550716107514e-3
allele num: 10194
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.363843006516139e-4
allele num: 65990
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 1.987466e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.162e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

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

GenotypeQuality
all individuals: 94
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.573003756209864e-5
allele num: 66024
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

FS
type: SiteQuality
SIO_000300: 1.094e0

QD
type: SiteQuality
SIO_000300: 1.252e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.987275e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 211
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4375
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.546832373446499e-4
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 1.987784e6

QD
type: SiteQuality
SIO_000300: 1.266e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

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

GenotypeQuality
all individuals: 68
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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
all individuals: 13
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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

GenotypeQuality
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GenotypeQuality
all individuals: 5182
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

QD
type: SiteQuality
SIO_000300: 1.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.987784e6

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12468
bin: 9.75e1
variant carriers: 4

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: 8614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513867021920794e-5
allele num: 66056
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-1

FS
type: SiteQuality
SIO_000300: 1.102e0

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

DP
type: SiteQuality
SIO_000300: 1.988348e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2651
bin: 8.75e1
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GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 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: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513592056668887e-5
allele num: 66068
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.98842e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.18e-1

FS
type: SiteQuality
SIO_000300: 2.795e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.386e0

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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