2-238249704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249704
    reference: chr 2
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
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.7237G>A
  hgvsp: ENSP00000315873.4:p.Asp2413Asn
  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.7252G>A
  hgvsp: ENSP00000315609.3:p.Asp2418Asn
  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.7855G>A
  hgvsp: ENSP00000295550.4:p.Asp2619Asn
  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.6034G>A
  hgvsp: ENSP00000418285.1:p.Asp2012Asn
  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.7237G>A
  hgvsp: ENSP00000386844.1:p.Asp2413Asn
  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.7255G>A
  hgvsp: ENSP00000295546.4:p.Asp2419Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4297G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28016
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp2619Asn
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-238249705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249705
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249705
    reference: chr 2
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
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.7854C>T
  hgvsp: ENST00000295550.4:c.7854C>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.7236C>T
  hgvsp: ENST00000409809.1:c.7236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4296C>T
  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.7251C>T
  hgvsp: ENST00000347401.3:c.7251C>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.7236C>T
  hgvsp: ENST00000353578.4:c.7236C>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.6033C>T
  hgvsp: ENST00000472056.1:c.6033C>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.7254C>T
  hgvsp: ENST00000346358.4:c.7254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile2618Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-238249709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249709
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249709
    reference: chr 2
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7250A>G
  hgvsp: ENSP00000295546.4:p.Asp2417Gly
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4292A>G
  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.7232A>G
  hgvsp: ENSP00000315873.4:p.Asp2411Gly
  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.6029A>G
  hgvsp: ENSP00000418285.1:p.Asp2010Gly
  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.7850A>G
  hgvsp: ENSP00000295550.4:p.Asp2617Gly
  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.7247A>G
  hgvsp: ENSP00000315609.3:p.Asp2416Gly
  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.7232A>G
  hgvsp: ENSP00000386844.1:p.Asp2411Gly
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp2617Gly
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-238249710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249710
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249710
    reference: chr 2
allele count: 32
allele frequency: 2.64091771890732e-4
allele num: 121170
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.7849G>A
  hgvsp: ENSP00000295550.4:p.Asp2617Asn
  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.6028G>A
  hgvsp: ENSP00000418285.1:p.Asp2010Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4291G>A
  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.7246G>A
  hgvsp: ENSP00000315609.3:p.Asp2416Asn
  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.7231G>A
  hgvsp: ENSP00000315873.4:p.Asp2411Asn
  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.7231G>A
  hgvsp: ENSP00000386844.1:p.Asp2411Asn
  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.7249G>A
  hgvsp: ENSP00000295546.4:p.Asp2417Asn
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28034
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp2617Asn
num of homozygotes: 1
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

2-238249713-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249713
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249713
    reference: chr 2
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
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.6025G>A
  hgvsp: ENSP00000418285.1:p.Val2009Met
  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.7846G>A
  hgvsp: ENSP00000295550.4:p.Val2616Met
  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.7228G>A
  hgvsp: ENSP00000386844.1:p.Val2410Met
  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.7228G>A
  hgvsp: ENSP00000315873.4:p.Val2410Met
  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.7246G>A
  hgvsp: ENSP00000295546.4:p.Val2416Met
  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.7243G>A
  hgvsp: ENSP00000315609.3:p.Val2415Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4288G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val2616Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

2-238249715-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249715
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249715
    reference: chr 2
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
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.6023A>T
  hgvsp: ENSP00000418285.1:p.Asp2008Val
  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.7241A>T
  hgvsp: ENSP00000315609.3:p.Asp2414Val
  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.7844A>T
  hgvsp: ENSP00000295550.4:p.Asp2615Val
  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.7226A>T
  hgvsp: ENSP00000386844.1:p.Asp2409Val
  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.7244A>T
  hgvsp: ENSP00000295546.4:p.Asp2415Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4286A>T
  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.7226A>T
  hgvsp: ENSP00000315873.4:p.Asp2409Val
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28016
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp2615Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-238249716-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249716
    reference: chr 2
allele count: 3
allele frequency: 2.477496077297878e-5
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4285G>T
  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.7225G>T
  hgvsp: ENSP00000386844.1:p.Asp2409Tyr
  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.6022G>T
  hgvsp: ENSP00000418285.1:p.Asp2008Tyr
  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.7243G>T
  hgvsp: ENSP00000295546.4:p.Asp2415Tyr
  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.7843G>T
  hgvsp: ENSP00000295550.4:p.Asp2615Tyr
  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.7240G>T
  hgvsp: ENSP00000315609.3:p.Asp2414Tyr
  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.7225G>T
  hgvsp: ENSP00000315873.4:p.Asp2409Tyr
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27953
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp2615Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-238249716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249716
    reference: chr 2
allele count: 15
allele frequency: 1.238748038648939e-4
allele num: 121090
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.7240G>A
  hgvsp: ENSP00000315609.3:p.Asp2414Asn
  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.7843G>A
  hgvsp: ENSP00000295550.4:p.Asp2615Asn
  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.6022G>A
  hgvsp: ENSP00000418285.1:p.Asp2008Asn
  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.7243G>A
  hgvsp: ENSP00000295546.4:p.Asp2415Asn
  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.7225G>A
  hgvsp: ENSP00000315873.4:p.Asp2409Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4285G>A
  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.7225G>A
  hgvsp: ENSP00000386844.1:p.Asp2409Asn
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp2615Asn
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: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

2-238249717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249717
    reference: chr 2
allele count: 9098
allele frequency: 7.538821033791286e-2
allele num: 120682
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4284C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.6021C>T
  hgvsp: ENST00000472056.1:c.6021C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7842C>T
  hgvsp: ENST00000295550.4:c.7842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7239C>T
  hgvsp: ENST00000347401.3:c.7239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7224C>T
  hgvsp: ENST00000409809.1:c.7224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7242C>T
  hgvsp: ENST00000346358.4:c.7242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7224C>T
  hgvsp: ENST00000353578.4:c.7224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 3.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 4.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 5.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 6.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 4.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 3.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 9988
  bin: 9.75e1
  variant carriers: 7373
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser2614Ser
num of homozygotes: 436
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-238249717-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249717
    reference: chr 2
allele count: 3
allele frequency: 2.485871961021528e-5
allele num: 120682
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7224C>G
  hgvsp: ENSP00000386844.1:p.Ser2408Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7239C>G
  hgvsp: ENSP00000315609.3:p.Ser2413Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7224C>G
  hgvsp: ENSP00000315873.4:p.Ser2408Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.6021C>G
  hgvsp: ENSP00000418285.1:p.Ser2007Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7842C>G
  hgvsp: ENSP00000295550.4:p.Ser2614Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7242C>G
  hgvsp: ENSP00000295546.4:p.Ser2414Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4284C>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9988
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser2614Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

2-238249719-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249719
    reference: chr 2
allele count: 105
allele frequency: 9.40657923027306e-4
allele num: 111624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7240A>G
  hgvsp: ENSP00000295546.4:p.Ser2414Gly
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4282A>G
  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.6019A>G
  hgvsp: ENSP00000418285.1:p.Ser2007Gly
  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.7237A>G
  hgvsp: ENSP00000315609.3:p.Ser2413Gly
  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.7840A>G
  hgvsp: ENSP00000295550.4:p.Ser2614Gly
  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.7222A>G
  hgvsp: ENSP00000386844.1:p.Ser2408Gly
  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.7222A>G
  hgvsp: ENSP00000315873.4:p.Ser2408Gly
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 9.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23536
  bin: 9.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4970
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Ser2614Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-238249721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249721
    reference: chr 2
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7220G>A
  hgvsp: ENSP00000386844.1:p.Gly2407Glu
  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.7220G>A
  hgvsp: ENSP00000315873.4:p.Gly2407Glu
  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.7235G>A
  hgvsp: ENSP00000315609.3:p.Gly2412Glu
  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.6017G>A
  hgvsp: ENSP00000418285.1:p.Gly2006Glu
  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.7838G>A
  hgvsp: ENSP00000295550.4:p.Gly2613Glu
  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.7238G>A
  hgvsp: ENSP00000295546.4:p.Gly2413Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4280G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly2613Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

2-238249726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249726
    reference: chr 2
allele count: 14
allele frequency: 1.155344292599195e-4
allele num: 121176
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.6012G>A
  hgvsp: ENST00000472056.1:c.6012G>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.7230G>A
  hgvsp: ENST00000347401.3:c.7230G>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.7233G>A
  hgvsp: ENST00000346358.4:c.7233G>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.7833G>A
  hgvsp: ENST00000295550.4:c.7833G>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.7215G>A
  hgvsp: ENST00000409809.1:c.7215G>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.7215G>A
  hgvsp: ENST00000353578.4:c.7215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4275G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26539
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala2611Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-238249727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249727
    reference: chr 2
allele count: 5
allele frequency: 4.126297720633139e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7229C>T
  hgvsp: ENSP00000315609.3:p.Ala2410Val
  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.7214C>T
  hgvsp: ENSP00000386844.1:p.Ala2405Val
  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.6011C>T
  hgvsp: ENSP00000418285.1:p.Ala2004Val
  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.7832C>T
  hgvsp: ENSP00000295550.4:p.Ala2611Val
  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.7232C>T
  hgvsp: ENSP00000295546.4:p.Ala2411Val
  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.7214C>T
  hgvsp: ENSP00000315873.4:p.Ala2405Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4274C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala2611Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

2-238249751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249751
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249751
    reference: chr 2
allele count: 2
allele frequency: 1.65196418541646e-5
allele num: 121068
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.5987G>A
  hgvsp: ENSP00000418285.1:p.Arg1996Lys
  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.7190G>A
  hgvsp: ENSP00000386844.1:p.Arg2397Lys
  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.7208G>A
  hgvsp: ENSP00000295546.4:p.Arg2403Lys
  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.7808G>A
  hgvsp: ENSP00000295550.4:p.Arg2603Lys
  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.7190G>A
  hgvsp: ENSP00000315873.4:p.Arg2397Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4250G>A
  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.7205G>A
  hgvsp: ENSP00000315609.3:p.Arg2402Lys
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14394
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg2603Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-238249760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249760
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249760
    reference: chr 2
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7181G>A
  hgvsp: ENSP00000386844.1:p.Gly2394Asp
  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.7799G>A
  hgvsp: ENSP00000295550.4:p.Gly2600Asp
  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.7196G>A
  hgvsp: ENSP00000315609.3:p.Gly2399Asp
  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.5978G>A
  hgvsp: ENSP00000418285.1:p.Gly1993Asp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4241G>A
  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.7199G>A
  hgvsp: ENSP00000295546.4:p.Gly2400Asp
  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.7181G>A
  hgvsp: ENSP00000315873.4:p.Gly2394Asp
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly2600Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

2-238249765-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249765
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249765
    reference: chr 2
allele count: 2
allele frequency: 1.653329806229747e-5
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4236A>T
  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.5973A>T
  hgvsp: ENST00000472056.1:c.5973A>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.7176A>T
  hgvsp: ENST00000353578.4:c.7176A>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.7176A>T
  hgvsp: ENST00000409809.1:c.7176A>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.7191A>T
  hgvsp: ENST00000347401.3:c.7191A>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.7194A>T
  hgvsp: ENST00000346358.4:c.7194A>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.7794A>T
  hgvsp: ENST00000295550.4:c.7794A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly2598Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-238249774-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249774
    reference: chr 2
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4227A>T
  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.7182A>T
  hgvsp: ENST00000347401.3:c.7182A>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.7185A>T
  hgvsp: ENST00000346358.4:c.7185A>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.7167A>T
  hgvsp: ENST00000409809.1:c.7167A>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.7167A>T
  hgvsp: ENST00000353578.4:c.7167A>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.5964A>T
  hgvsp: ENST00000472056.1:c.5964A>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.7785A>T
  hgvsp: ENST00000295550.4:c.7785A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro2595Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-238249779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249779
    reference: chr 2
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7162G>A
  hgvsp: ENSP00000386844.1:p.Asp2388Asn
  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.7177G>A
  hgvsp: ENSP00000315609.3:p.Asp2393Asn
  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.7162G>A
  hgvsp: ENSP00000315873.4:p.Asp2388Asn
  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.7180G>A
  hgvsp: ENSP00000295546.4:p.Asp2394Asn
  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.5959G>A
  hgvsp: ENSP00000418285.1:p.Asp1987Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4222G>A
  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.7780G>A
  hgvsp: ENSP00000295550.4:p.Asp2594Asn
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp2594Asn
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-238249780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249780
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249780
    reference: chr 2
allele count: 93
allele frequency: 7.710547697613875e-4
allele num: 120614
alternate allele: A
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.7176C>T
  hgvsp: ENST00000347401.3:c.7176C>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.7161C>T
  hgvsp: ENST00000409809.1:c.7161C>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.7179C>T
  hgvsp: ENST00000346358.4:c.7179C>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.7779C>T
  hgvsp: ENST00000295550.4:c.7779C>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.7161C>T
  hgvsp: ENST00000353578.4:c.7161C>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.5958C>T
  hgvsp: ENST00000472056.1:c.5958C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4221C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7926
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile2593Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-238249782-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249782
    reference: chr 2
allele count: 4
allele frequency: 3.31619963521804e-5
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7174A>T
  hgvsp: ENSP00000315609.3:p.Ile2392Phe
  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.7159A>T
  hgvsp: ENSP00000386844.1:p.Ile2387Phe
  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.7177A>T
  hgvsp: ENSP00000295546.4:p.Ile2393Phe
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4219A>T
  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.5956A>T
  hgvsp: ENSP00000418285.1:p.Ile1986Phe
  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.7777A>T
  hgvsp: ENSP00000295550.4:p.Ile2593Phe
  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.7159A>T
  hgvsp: ENSP00000315873.4:p.Ile2387Phe
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26546
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile2593Phe
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-238249787-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249787
    reference: chr 2
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
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.7154G>T
  hgvsp: ENSP00000386844.1:p.Cys2385Phe
  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.7772G>T
  hgvsp: ENSP00000295550.4:p.Cys2591Phe
  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.7169G>T
  hgvsp: ENSP00000315609.3:p.Cys2390Phe
  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.7172G>T
  hgvsp: ENSP00000295546.4:p.Cys2391Phe
  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.7154G>T
  hgvsp: ENSP00000315873.4:p.Cys2385Phe
  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.5951G>T
  hgvsp: ENSP00000418285.1:p.Cys1984Phe
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4214G>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26542
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys2591Phe
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: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-238249791-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249791
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249791
    reference: chr 2
allele count: 3
allele frequency: 2.489957172736629e-5
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7150A>T
  hgvsp: ENSP00000386844.1:p.Ile2384Phe
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7165A>T
  hgvsp: ENSP00000315609.3:p.Ile2389Phe
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7768A>T
  hgvsp: ENSP00000295550.4:p.Ile2590Phe
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7150A>T
  hgvsp: ENSP00000315873.4:p.Ile2384Phe
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7168A>T
  hgvsp: ENSP00000295546.4:p.Ile2390Phe
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4210A>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5947A>T
  hgvsp: ENSP00000418285.1:p.Ile1983Phe
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile2590Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-238249791-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249791
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249791
    reference: chr 2
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7768A>G
  hgvsp: ENSP00000295550.4:p.Ile2590Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5947A>G
  hgvsp: ENSP00000418285.1:p.Ile1983Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4210A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7165A>G
  hgvsp: ENSP00000315609.3:p.Ile2389Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7150A>G
  hgvsp: ENSP00000315873.4:p.Ile2384Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7150A>G
  hgvsp: ENSP00000386844.1:p.Ile2384Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7168A>G
  hgvsp: ENSP00000295546.4:p.Ile2390Val
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile2590Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-238249812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249812
    reference: chr 2
allele count: 1
allele frequency: 8.337085021593051e-6
allele num: 119946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7148-19C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4208-19C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7766-19C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7148-19C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5945-19C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7163-19C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7166-19C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-238249816-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249816
    reference: chr 2
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7148-23T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7766-23T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7148-23T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4208-23T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7163-23T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7166-23T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5945-23T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26532
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-238249825-G-GTGAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249829
    reference: chr 2
allele count: 2
allele frequency: 1.671039219290477e-5
allele num: 119686
alternate allele: GTGAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7148-36_7148-33dupGTCA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5945-36_5945-33dupGTCA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7148-36_7148-33dupGTCA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7166-36_7166-33dupGTCA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7163-36_7163-33dupGTCA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7766-36_7766-33dupGTCA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4208-36_4208-33dupGTCA
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26527
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-238249832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249832
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249832
    reference: chr 2
allele count: 1
allele frequency: 8.369601606963508e-6
allele num: 119480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7148-39G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7166-39G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7163-39G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7148-39G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7766-39G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4208-39G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5945-39G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

2-238249834-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249834
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249834
    reference: chr 2
allele count: 9
allele frequency: 7.541478129713424e-5
allele num: 119340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7148-41T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7766-41T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5945-41T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7166-41T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7163-41T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7148-41T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4208-41T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26526
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

2-238249837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249837
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249837
    reference: chr 2
allele count: 6
allele frequency: 5.02883196996111e-5
allele num: 119312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7166-44C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4208-44C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7163-44C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7148-44C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7766-44C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7148-44C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5945-44C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26525
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-238249840-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249840
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249840
    reference: chr 2
allele count: 2
allele frequency: 1.677514594376971e-5
allele num: 119224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7166-47C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7148-47C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4208-47C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7163-47C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7148-47C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7766-47C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5945-47C>A
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26523
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-238249843-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238249843
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238249843
    reference: chr 2
allele count: 2
allele frequency: 1.678697330871244e-5
allele num: 119140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7166-50A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4208-50A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7148-50A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7766-50A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7163-50A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7148-50A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5945-50A>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-238250659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250659
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250659
    reference: chr 2
allele count: 2
allele frequency: 1.849283402681461e-5
allele num: 108150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7162+49C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7147+49C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4207+49C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7147+49C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7165+49C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7765+49C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5944+49C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14833
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

2-238250682-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250682
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250682
    reference: chr 2
allele count: 12
allele frequency: 1.067957708874729e-4
allele num: 112364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7147+26T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4207+26T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5944+26T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7165+26T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7765+26T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7162+26T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7147+26T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30256
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8008
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/2-238250687-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250687
    reference: chr 2
allele count: 1
allele frequency: 8.804366966015144e-6
allele num: 113580
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7765+21G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4207+21G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7147+21G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7162+21G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5944+21G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7165+21G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7147+21G>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36705
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum

2-238250691-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250691
    reference: chr 2
allele count: 1
allele frequency: 8.706099493305009e-6
allele num: 114862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4207+17A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5944+17A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7147+17A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7165+17A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7765+17A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7147+17A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7162+17A>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-238250692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250692
    reference: chr 2
allele count: 3
allele frequency: 2.60385022653497e-5
allele num: 115214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7147+16A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7147+16A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7165+16A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7765+16A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7162+16A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5944+16A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4207+16A>G
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33882
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

2-238250693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250693
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250693
    reference: chr 2
allele count: 1
allele frequency: 8.657259111765215e-6
allele num: 115510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5944+15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7765+15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7147+15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4207+15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7165+15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7162+15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7147+15T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/2-238250714-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250714
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250714
    reference: chr 2
allele count: 1
allele frequency: 8.386728840283135e-6
allele num: 119236
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.7141T>G
  hgvsp: ENSP00000315873.4:p.Cys2381Gly
  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.7156T>G
  hgvsp: ENSP00000315609.3:p.Cys2386Gly
  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.7759T>G
  hgvsp: ENSP00000295550.4:p.Cys2587Gly
  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.7159T>G
  hgvsp: ENSP00000295546.4:p.Cys2387Gly
  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.7141T>G
  hgvsp: ENSP00000386844.1:p.Cys2381Gly
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4201T>G
  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.5938T>G
  hgvsp: ENSP00000418285.1:p.Cys1980Gly
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys2587Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-238250716-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250716
    reference: chr 2
allele count: 1
allele frequency: 8.372264362619514e-6
allele num: 119442
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.7139T>C
  hgvsp: ENSP00000315873.4:p.Val2380Ala
  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.7157T>C
  hgvsp: ENSP00000295546.4:p.Val2386Ala
  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.7757T>C
  hgvsp: ENSP00000295550.4:p.Val2586Ala
  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.7154T>C
  hgvsp: ENSP00000315609.3:p.Val2385Ala
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4199T>C
  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.7139T>C
  hgvsp: ENSP00000386844.1:p.Val2380Ala
  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.5936T>C
  hgvsp: ENSP00000418285.1:p.Val1979Ala
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val2586Ala
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

2-238250718-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250718
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250718
    reference: chr 2
allele count: 19
allele frequency: 1.588974191713918e-4
allele num: 119574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7155T>C
  hgvsp: ENST00000346358.4:c.7155T>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.7755T>C
  hgvsp: ENST00000295550.4:c.7755T>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.7137T>C
  hgvsp: ENST00000353578.4:c.7137T>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.7137T>C
  hgvsp: ENST00000409809.1:c.7137T>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.7152T>C
  hgvsp: ENST00000347401.3:c.7152T>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.5934T>C
  hgvsp: ENST00000472056.1:c.5934T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4197T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10763
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His2585His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-238250724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250724
    reference: chr 2
allele count: 5
allele frequency: 4.169168167567207e-5
allele num: 119928
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7749G>A
  hgvsp: ENST00000295550.4:c.7749G>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.7146G>A
  hgvsp: ENST00000347401.3:c.7146G>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.7131G>A
  hgvsp: ENST00000353578.4:c.7131G>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.5928G>A
  hgvsp: ENST00000472056.1:c.5928G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4191G>A
  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.7131G>A
  hgvsp: ENST00000409809.1:c.7131G>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.7149G>A
  hgvsp: ENST00000346358.4:c.7149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7999
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Thr2583Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-238250725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250725
    reference: chr 2
allele count: 2
allele frequency: 1.666750004166875e-5
allele num: 119994
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.7148C>T
  hgvsp: ENSP00000295546.4:p.Thr2383Met
  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.7145C>T
  hgvsp: ENSP00000315609.3:p.Thr2382Met
  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.7130C>T
  hgvsp: ENSP00000386844.1:p.Thr2377Met
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4190C>T
  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.5927C>T
  hgvsp: ENSP00000418285.1:p.Thr1976Met
  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.7130C>T
  hgvsp: ENSP00000315873.4:p.Thr2377Met
  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.7748C>T
  hgvsp: ENSP00000295550.4:p.Thr2583Met
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7996
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr2583Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-238250727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250727
    reference: chr 2
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
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.7128C>T
  hgvsp: ENST00000409809.1:c.7128C>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.5925C>T
  hgvsp: ENST00000472056.1:c.5925C>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.7143C>T
  hgvsp: ENST00000347401.3:c.7143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4188C>T
  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.7746C>T
  hgvsp: ENST00000295550.4:c.7746C>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.7146C>T
  hgvsp: ENST00000346358.4:c.7146C>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.7128C>T
  hgvsp: ENST00000353578.4:c.7128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu2582Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-238250727-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250727
    reference: chr 2
allele count: 2
allele frequency: 1.665084836072398e-5
allele num: 120114
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7746C>A
  hgvsp: ENST00000295550.4:c.7746C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4188C>A
  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.7146C>A
  hgvsp: ENST00000346358.4:c.7146C>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.7143C>A
  hgvsp: ENST00000347401.3:c.7143C>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.5925C>A
  hgvsp: ENST00000472056.1:c.5925C>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.7128C>A
  hgvsp: ENST00000409809.1:c.7128C>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.7128C>A
  hgvsp: ENST00000353578.4:c.7128C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu2582Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

2-238250729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250729
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250729
    reference: chr 2
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7126C>T
  hgvsp: ENSP00000315873.4:p.Leu2376Phe
  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.7744C>T
  hgvsp: ENSP00000295550.4:p.Leu2582Phe
  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.7126C>T
  hgvsp: ENSP00000386844.1:p.Leu2376Phe
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4186C>T
  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.7144C>T
  hgvsp: ENSP00000295546.4:p.Leu2382Phe
  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.5923C>T
  hgvsp: ENSP00000418285.1:p.Leu1975Phe
  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.7141C>T
  hgvsp: ENSP00000315609.3:p.Leu2381Phe
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu2582Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-238250750-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250750
    reference: chr 2
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
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.7723A>T
  hgvsp: ENSP00000295550.4:p.Thr2575Ser
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4165A>T
  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.7105A>T
  hgvsp: ENSP00000386844.1:p.Thr2369Ser
  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.7123A>T
  hgvsp: ENSP00000295546.4:p.Thr2375Ser
  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.7120A>T
  hgvsp: ENSP00000315609.3:p.Thr2374Ser
  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.5902A>T
  hgvsp: ENSP00000418285.1:p.Thr1968Ser
  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.7105A>T
  hgvsp: ENSP00000315873.4:p.Thr2369Ser
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7999
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr2575Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

2-238250760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250760
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250760
    reference: chr 2
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
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.7110G>A
  hgvsp: ENST00000347401.3:c.7110G>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.7095G>A
  hgvsp: ENST00000409809.1:c.7095G>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.5892G>A
  hgvsp: ENST00000472056.1:c.5892G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4155G>A
  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.7713G>A
  hgvsp: ENST00000295550.4:c.7713G>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.7095G>A
  hgvsp: ENST00000353578.4:c.7095G>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.7113G>A
  hgvsp: ENST00000346358.4:c.7113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly2571Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-238250764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250764
    reference: chr 2
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
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.7091C>T
  hgvsp: ENSP00000386844.1:p.Ala2364Val
  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.7091C>T
  hgvsp: ENSP00000315873.4:p.Ala2364Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4151C>T
  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.7106C>T
  hgvsp: ENSP00000315609.3:p.Ala2369Val
  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.7709C>T
  hgvsp: ENSP00000295550.4:p.Ala2570Val
  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.5888C>T
  hgvsp: ENSP00000418285.1:p.Ala1963Val
  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.7109C>T
  hgvsp: ENSP00000295546.4:p.Ala2370Val
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala2570Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-238250764-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250764
    reference: chr 2
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
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.5888C>A
  hgvsp: ENSP00000418285.1:p.Ala1963Glu
  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.7106C>A
  hgvsp: ENSP00000315609.3:p.Ala2369Glu
  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.7709C>A
  hgvsp: ENSP00000295550.4:p.Ala2570Glu
  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.7109C>A
  hgvsp: ENSP00000295546.4:p.Ala2370Glu
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4151C>A
  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.7091C>A
  hgvsp: ENSP00000315873.4:p.Ala2364Glu
  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.7091C>A
  hgvsp: ENSP00000386844.1:p.Ala2364Glu
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala2570Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-238250771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250771
    reference: chr 2
allele count: 29
allele frequency: 2.407797944238721e-4
allele num: 120442
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.7084C>T
  hgvsp: ENST00000409809.1:c.7084C>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.7102C>T
  hgvsp: ENST00000346358.4:c.7102C>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.7084C>T
  hgvsp: ENST00000353578.4:c.7084C>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.5881C>T
  hgvsp: ENST00000472056.1:c.5881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4144C>T
  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.7099C>T
  hgvsp: ENST00000347401.3:c.7099C>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.7702C>T
  hgvsp: ENST00000295550.4:c.7702C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36017
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8019
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu2568Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/2-238250778-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250778
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250778
    reference: chr 2
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
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.7095G>T
  hgvsp: ENST00000346358.4:c.7095G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4137G>T
  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.7695G>T
  hgvsp: ENST00000295550.4:c.7695G>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.7092G>T
  hgvsp: ENST00000347401.3:c.7092G>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.5874G>T
  hgvsp: ENST00000472056.1:c.5874G>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.7077G>T
  hgvsp: ENST00000353578.4:c.7077G>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.7077G>T
  hgvsp: ENST00000409809.1:c.7077G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44616
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala2565Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

2-238250779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250779
    reference: chr 2
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
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.7694C>T
  hgvsp: ENSP00000295550.4:p.Ala2565Val
  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.7091C>T
  hgvsp: ENSP00000315609.3:p.Ala2364Val
  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.7076C>T
  hgvsp: ENSP00000386844.1:p.Ala2359Val
  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.7076C>T
  hgvsp: ENSP00000315873.4:p.Ala2359Val
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4136C>T
  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.7094C>T
  hgvsp: ENSP00000295546.4:p.Ala2365Val
  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.5873C>T
  hgvsp: ENSP00000418285.1:p.Ala1958Val
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35582
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7994
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala2565Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-238250786-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250786
    reference: chr 2
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4129G>C
  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.7087G>C
  hgvsp: ENSP00000295546.4:p.Gly2363Arg
  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.7069G>C
  hgvsp: ENSP00000386844.1:p.Gly2357Arg
  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.5866G>C
  hgvsp: ENSP00000418285.1:p.Gly1956Arg
  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.7687G>C
  hgvsp: ENSP00000295550.4:p.Gly2563Arg
  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.7069G>C
  hgvsp: ENSP00000315873.4:p.Gly2357Arg
  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.7084G>C
  hgvsp: ENSP00000315609.3:p.Gly2362Arg
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly2563Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-238250787-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250787
    reference: chr 2
allele count: 1
allele frequency: 8.351846593281774e-6
allele num: 119734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7068G>C
  hgvsp: ENST00000409809.1:c.7068G>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.5865G>C
  hgvsp: ENST00000472056.1:c.5865G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4128G>C
  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.7083G>C
  hgvsp: ENST00000347401.3:c.7083G>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.7068G>C
  hgvsp: ENST00000353578.4:c.7068G>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.7086G>C
  hgvsp: ENST00000346358.4:c.7086G>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.7686G>C
  hgvsp: ENST00000295550.4:c.7686G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val2562Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

2-238250788-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250788
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250788
    reference: chr 2
allele count: 18
allele frequency: 1.504136375031336e-4
allele num: 119670
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7685T>C
  hgvsp: ENSP00000295550.4:p.Val2562Ala
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7067T>C
  hgvsp: ENSP00000315873.4:p.Val2356Ala
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7067T>C
  hgvsp: ENSP00000386844.1:p.Val2356Ala
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7085T>C
  hgvsp: ENSP00000295546.4:p.Val2362Ala
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5864T>C
  hgvsp: ENSP00000418285.1:p.Val1955Ala
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7082T>C
  hgvsp: ENSP00000315609.3:p.Val2361Ala
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4127T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34717
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val2562Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-238250803-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250803
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250803
    reference: chr 2
allele count: 1
allele frequency: 8.514406375587495e-6
allele num: 117448
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7670T>C
  hgvsp: ENSP00000295550.4:p.Ile2557Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7067T>C
  hgvsp: ENSP00000315609.3:p.Ile2356Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7052T>C
  hgvsp: ENSP00000386844.1:p.Ile2351Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7052T>C
  hgvsp: ENSP00000315873.4:p.Ile2351Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5849T>C
  hgvsp: ENSP00000418285.1:p.Ile1950Thr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4112T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7070T>C
  hgvsp: ENSP00000295546.4:p.Ile2357Thr
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile2557Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

2-238250803-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250803
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250803
    reference: chr 2
allele count: 4
allele frequency: 3.405762550234998e-5
allele num: 117448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7067T>A
  hgvsp: ENSP00000315609.3:p.Ile2356Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7670T>A
  hgvsp: ENSP00000295550.4:p.Ile2557Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7052T>A
  hgvsp: ENSP00000315873.4:p.Ile2351Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7070T>A
  hgvsp: ENSP00000295546.4:p.Ile2357Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7052T>A
  hgvsp: ENSP00000386844.1:p.Ile2351Asn
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4112T>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5849T>A
  hgvsp: ENSP00000418285.1:p.Ile1950Asn
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7992
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile2557Asn
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

2-238250805-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250805
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250804
    reference: chr 2
allele count: 1
allele frequency: 8.547446877617655e-6
allele num: 116994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7051-2delA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7066-2delA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5848-2delA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4109delA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7069-2delA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7051-2delA
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7669-2delA
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7991
  bin: 9.75e1
  variant carriers: 1
hgvs: c.7669-2delA
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: CT
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

2-238250807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250807
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250807
    reference: chr 2
allele count: 5
allele frequency: 4.28294872453787e-5
allele num: 116742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4108C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7069-3C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7066-3C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7051-3C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7669-3C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5848-3C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7051-3C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
hgvs: c.7669-3C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

2-238250820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250820
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250820
    reference: chr 2
allele count: 2
allele frequency: 1.763792860166502e-5
allele num: 113392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7669-16C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7051-16C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4095C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7069-16C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5848-16C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7051-16C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7066-16C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9975
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7990
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-238250838-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250838
    reference: chr 2
allele count: 2
allele frequency: 1.85449622610018e-5
allele num: 107846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7066-34G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7051-34G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7051-34G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4077G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7669-34G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5848-34G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7069-34G>T
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-238250838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250838
    reference: chr 2
allele count: 5
allele frequency: 4.636240565250449e-5
allele num: 107846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5848-34G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7051-34G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4077G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7069-34G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7051-34G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7066-34G>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7669-34G>A
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-238250839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250839
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250839
    reference: chr 2
allele count: 7883
allele frequency: 7.355740519558077e-2
allele num: 107168
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7051-35C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7051-35C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4076C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7669-35C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5848-35C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7069-35C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7066-35C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19397
  bin: 1.25e1
  variant carriers: 1328
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 11192
  bin: 1.75e1
  variant carriers: 1879
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 2.75e1
  variant carriers: 791
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 7.5e0
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 2.25e1
  variant carriers: 1527
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 364
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 8452
  bin: 6.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 2.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 13851
  bin: 9.75e1
  variant carriers: 7169
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 3.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 48
num of homozygotes: 314
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-238250849-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238250849
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238250849
    reference: chr 2
allele count: 3
allele frequency: 2.935765451912162e-5
allele num: 102188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.4066T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7051-45T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7051-45T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5848-45T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7669-45T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7066-45T>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7069-45T>G
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19530
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5772
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7851
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

2-238252898-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238252898
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238252898
    reference: chr 2
allele count: 371
allele frequency: 3.196677523307312e-3
allele num: 116058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7050+95C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7068+95C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.2017C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5847+95C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7065+95C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7668+95C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7050+95C>G
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 8.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 21341
  bin: 9.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 8
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

2-238252898-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238252898
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238252898
    reference: chr 2
allele count: 142
allele frequency: 1.223526167950507e-3
allele num: 116058
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7668+95C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5847+95C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7050+95C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7050+95C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7068+95C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7065+95C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.2017C>A
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21341
  bin: 9.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38918
  bin: 9.75e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 2
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: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-238252899-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238252899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238252899
    reference: chr 2
allele count: 1
allele frequency: 8.614748449345278e-6
allele num: 116080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7068+94C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7050+94C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7668+94C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7050+94C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5847+94C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.2016C>A
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7065+94C>A
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21343
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

2-238252903-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238252903
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238252903
    reference: chr 2
allele count: 1
allele frequency: 8.61163259330704e-6
allele num: 116122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7050+90A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.2012A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7068+90A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7050+90A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5847+90A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7065+90A>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7668+90A>G
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21343
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-238252906-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238252906
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238252906
    reference: chr 2
allele count: 1
allele frequency: 8.609556607834696e-6
allele num: 116150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7068+87T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.2009T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7065+87T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5847+87T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7668+87T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7050+87T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7050+87T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21343
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6417
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-238252907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238252907
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238252907
    reference: chr 2
allele count: 10
allele frequency: 8.609556607834697e-5
allele num: 116150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7050+86C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7050+86C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.2008C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5847+86C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7065+86C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7068+86C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7668+86C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21344
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-238252915-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238252915
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238252915
    reference: chr 2
allele count: 20
allele frequency: 1.72037091196862e-4
allele num: 116254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.7050+78C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5847+78C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.7050+78C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.7668+78C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.7065+78C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163359
  ensembl transcript: ENST00000491769
  gene symbol: COL6A3
  hgvsc: ENST00000491769.1:n.2000C>G
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.7068+78C>G
  variant of: http://identifiers.org/hgnc/2213
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21348
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2452
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

FS
type: SiteQuality
SIO_000300: 3.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 3.089143e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28015
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2453
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 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: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: -1.644e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

QD
type: SiteQuality
SIO_000300: 1.523e1

DP
type: SiteQuality
SIO_000300: 3.089024e6

FS
type: SiteQuality
SIO_000300: 1.381e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

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

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

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28007
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13240
bin: 6.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.049e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.643e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.088037e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

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

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13251
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2752
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5126
bin: 6.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.457814661134163e-4
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

African
type: Population
allele count: 28
allele frequency: 2.708978328173375e-3
allele num: 10336
num of homozygotes: 1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.15e-2

DP
type: SiteQuality
SIO_000300: 3.091647e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.197e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.22e0

VQSLOD
type: SiteQuality
SIO_000300: 4.99e0

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

GenotypeQuality
all individuals: 13242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28017
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.695e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.629e0

DP
type: SiteQuality
SIO_000300: 3.087845e6

VQSLOD
type: SiteQuality
SIO_000300: -2.962e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 2.1038e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3541
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.086672e6

MQRankSum
type: SiteQuality
SIO_000300: -1.401e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 3.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.57e-1

GenotypeQuality
all individuals: 2386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.938735944164405e-4
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.089422e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 6.969e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27953
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 12807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.202248204141745e-4
allele num: 66542
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.03030303030303e-4
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
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: -2.33e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 6.969e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 3.089422e6

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3226
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 179
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29753
bin: 9.75e1
variant carriers: 8648

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2950
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2432
bin: 9.25e1
variant carriers: 3

South Asian
type: Population
allele count: 1067
allele frequency: 6.467450600072736e-2
allele num: 16498
num of homozygotes: 39

African
type: Population
allele count: 181
allele frequency: 1.769651935862339e-2
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6699
allele frequency: 1.009250331445101e-1
allele num: 66376
num of homozygotes: 351

Other
type: Population
allele count: 57
allele frequency: 6.404494382022471e-2
allele num: 890
num of homozygotes: 2

Latino
type: Population
allele count: 400
allele frequency: 3.459010722933241e-2
allele num: 11564
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 613
allele frequency: 9.448212083847102e-2
allele num: 6488
num of homozygotes: 37

East Asian
type: Population
allele count: 81
allele frequency: 9.377170641352165e-3
allele num: 8638
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 4.064145e6

QD
type: SiteQuality
SIO_000300: 1.424e1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

FS
type: SiteQuality
SIO_000300: 4.987e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

GenotypeQuality
all individuals: 12403
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29753
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.082614056720099e-4
allele num: 6488
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.987e0

DP
type: SiteQuality
SIO_000300: 4.064145e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

QD
type: SiteQuality
SIO_000300: 1.424e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3223
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4631
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3483
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 2

Other
type: Population
allele count: 1
allele frequency: 1.278772378516624e-3
allele num: 782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 66
allele frequency: 1.084349226168961e-3
allele num: 60866
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.185931424531637e-4
allele num: 11316
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.17565989254847e-4
allele num: 8562
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.818251240931653e-3
allele num: 5238
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.575685339690107e-4
allele num: 8390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

FS
type: SiteQuality
SIO_000300: 2.8528e2

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.015000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -4.062e2

DP
type: SiteQuality
SIO_000300: 3.021918e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.953e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.970000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.894e1

QD
type: SiteQuality
SIO_000300: 2.19e0

GenotypeQuality
all individuals: 1746
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2881
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26534
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.297e0

DP
type: SiteQuality
SIO_000300: 2.553749e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.369e0

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

GenotypeQuality
all individuals: 185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 7.877832989940613e-4
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
SIO_000300: 1.242e1

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e0

DP
type: SiteQuality
SIO_000300: 2.55403e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: -4.23e-2

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26537
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1749
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14393
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3635
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.005645306588193e-5
allele num: 66604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

DP
type: SiteQuality
SIO_000300: 2.552778e6

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

FS
type: SiteQuality
SIO_000300: 3.433e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

GenotypeQuality
all individuals: 2882
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26536
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.312e0

DP
type: SiteQuality
SIO_000300: 2.550643e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.281e0

FS
type: SiteQuality
SIO_000300: 1.237e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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: 8640
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.088e0

DP
type: SiteQuality
SIO_000300: 2.54947e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

FS
type: SiteQuality
SIO_000300: 1.582e0

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5319
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26535
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14299
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.007790176557283e-5
allele num: 66494
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.807e0

FS
type: SiteQuality
SIO_000300: 7.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

DP
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MQRankSum
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QD
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VQSLOD
type: SiteQuality
SIO_000300: -2.151e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.416e0

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: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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SIO_000300: -1.096e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.525e0

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: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 2.543635e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-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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variant carriers: 0

African
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allele count: 2
allele frequency: 1.966181675186787e-4
allele num: 10172
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 8.446710308003258e-4
allele num: 66298
num of homozygotes: 0

Latino
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allele count: 11
allele frequency: 9.53371468192061e-4
allele num: 11538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 23
allele frequency: 1.396139371130266e-3
allele num: 16474
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.465e0

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

DP
type: SiteQuality
SIO_000300: 2.545239e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.999e0

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.032818532818533e-5
allele num: 66304
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

DP
type: SiteQuality
SIO_000300: 2.539023e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

FS
type: SiteQuality
SIO_000300: 1.948e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.558e1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-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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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
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South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10148
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 3.348e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.788e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.008e0

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

South Asian
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allele frequency: 1.821051353648173e-4
allele num: 16474
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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Latino
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allele num: 11532
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African
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

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

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

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

African
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allele count: 1
allele frequency: 9.871668311944718e-5
allele num: 10130
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

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

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

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

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

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

European (Finnish)
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allele num: 6610
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East Asian
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South Asian
type: Population
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Other
type: Population
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65896
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
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Other
type: Population
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allele num: 894
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Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.564e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

DP
type: SiteQuality
SIO_000300: 2.514997e6

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3324
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65776
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21580547112462e-4
allele num: 16450
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.306e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 9.97e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.648e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

DP
type: SiteQuality
SIO_000300: 2.503914e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

GenotypeQuality
all individuals: 3310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26522
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523090045083465e-5
allele num: 65656
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 7.145e0

QD
type: SiteQuality
SIO_000300: 1.355e1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

DP
type: SiteQuality
SIO_000300: 2.492792e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 231
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
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variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 526
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variant carriers: 0

GenotypeQuality
all individuals: 10585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2870
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65588
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.183908045977011e-4
allele num: 9744
num of homozygotes: 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: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.741250217656277e-4
allele num: 11486
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.473e1

DP
type: SiteQuality
SIO_000300: 2.48597e6

GenotypeQuality
all individuals: 153
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.542701393095094e-4
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.575542201750907e-5
allele num: 65566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.197e0

QD
type: SiteQuality
SIO_000300: 1.297e1

DP
type: SiteQuality
SIO_000300: 2.484993e6

GenotypeQuality
all individuals: 422
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 918
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10272
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
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: 2
allele frequency: 1.216397031991242e-4
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

DP
type: SiteQuality
SIO_000300: 2.481235e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.455e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 4451
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26522
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 906
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216397031991242e-4
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

DP
type: SiteQuality
SIO_000300: 2.479877e6

FS
type: SiteQuality
SIO_000300: 2.108e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 5817
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5095
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7997
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4158
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.984025559105431e-5
allele num: 10016
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.106310403638431e-5
allele num: 14072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60154
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.410015e6

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.15e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.935e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.072538860103627e-4
allele num: 9650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.599846414744185e-4
allele num: 62506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.601221e6

QD
type: SiteQuality
SIO_000300: 1.517e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.6e0

GenotypeQuality
all individuals: 1318
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
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GenotypeQuality
all individuals: 1787
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7997
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 417
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63132
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.21447656060238e-4
allele num: 8234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14662
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.742e0

VQSLOD
type: SiteQuality
SIO_000300: -1.026e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.629654e6

MQRankSum
type: SiteQuality
SIO_000300: -1.01e0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7995
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.223390518354546e-5
allele num: 10842
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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MQ
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.580777742649384e-4
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European (Non-Finnish)
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allele frequency: 3.123633410382957e-5
allele num: 64028
num of homozygotes: 0

African
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Latino
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ReadPosRankSum
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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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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 9.170946441672781e-5
allele num: 10904
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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QD
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

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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East Asian
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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FS
type: SiteQuality
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QD
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.721209e6

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

Other
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.160631383472609e-4
allele num: 8616
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 1.826e0

MQ
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BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.44e-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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6548
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South Asian
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allele frequency: 6.355662895640016e-5
allele num: 15734
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African
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East Asian
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allele count: 18
allele frequency: 2.089621546319944e-3
allele num: 8614
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Other
type: Population
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allele frequency: 0.0e0
allele num: 892
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66136
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11436
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East Asian
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allele frequency: 0.0e0
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African
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Other
type: Population
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South Asian
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allele frequency: 6.309944472488642e-5
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 6.034638826866212e-5
allele num: 66284
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DP
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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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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European (Finnish)
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Latino
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East Asian
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African
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Other
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South Asian
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European (Non-Finnish)
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allele num: 66310
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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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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South Asian
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Latino
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European (Non-Finnish)
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allele num: 66356
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European (Finnish)
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East Asian
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Other
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African
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.127e1

DP
type: SiteQuality
SIO_000300: 1.735276e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.174e0

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
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GenotypeQuality
all individuals: 7998
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50665943470138e-5
allele num: 66372
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: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.119e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.736296e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

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

GenotypeQuality
all individuals: 3608
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variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 813
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variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.742811e6

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

QD
type: SiteQuality
SIO_000300: 8.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.517e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.363e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

GenotypeQuality
all individuals: 44982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 442
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GenotypeQuality
all individuals: 7995
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 1.74382e6

FS
type: SiteQuality
SIO_000300: 3.272e0

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

QD
type: SiteQuality
SIO_000300: 3.96e0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
all individuals: 3614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7998
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 440
bin: 9.25e1
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GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.569e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.744121e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.11e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
all individuals: 45063
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.218905472636816e-5
allele num: 16080
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.744121e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.569e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.343e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.11e-1

GenotypeQuality
all individuals: 573
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 442
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variant carriers: 1

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

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 284
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variant carriers: 0

GenotypeQuality
all individuals: 44828
bin: 6.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 29
allele frequency: 3.355704697986577e-3
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

QD
type: SiteQuality
SIO_000300: 1.204e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.74324e6

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

GenotypeQuality
all individuals: 780
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variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
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GenotypeQuality
all individuals: 284
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GenotypeQuality
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 572
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7994
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variant carriers: 1

GenotypeQuality
all individuals: 442
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 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: 15988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.9e-3

FS
type: SiteQuality
SIO_000300: 4.262e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.21e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

DP
type: SiteQuality
SIO_000300: 1.739992e6

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 5
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GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
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: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.257822277847309e-5
allele num: 15980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.740084e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.336e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.196e0

QD
type: SiteQuality
SIO_000300: 7.79e0

GenotypeQuality
all individuals: 43911
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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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variant carriers: 0

GenotypeQuality
all individuals: 7995
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 1.73286e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.433e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.051e0

FS
type: SiteQuality
SIO_000300: 1.2902e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

QD
type: SiteQuality
SIO_000300: 3.115e1

GenotypeQuality
all individuals: 1528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 737
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
all individuals: 7992
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GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
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variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511030522816561e-5
allele num: 66180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.731455e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.272e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

FS
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43736
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8003
bin: 9.75e1
variant carriers: 18

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.751654340210199e-3
allele num: 10276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.806e0

DP
type: SiteQuality
SIO_000300: 1.730775e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 1.205e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7992
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536995481233285e-5
allele num: 65062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.307e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.311e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.685979e6

GenotypeQuality
all individuals: 737
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 345
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
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variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15424
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.988035892323031e-4
allele num: 10030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

FS
type: SiteQuality
SIO_000300: 4.307e0

QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 1.685979e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4756
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
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variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543162248078763e-5
allele num: 64802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15354
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 2.881e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.677158e6

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.521e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 1.005e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38340
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7990
bin: 9.75e1
variant carriers: 5

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

South Asian
type: Population
allele count: 5
allele frequency: 3.262429857758058e-4
allele num: 15326
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.67253e6

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.193e1

GenotypeQuality
all individuals: 155
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 433
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variant carriers: 0

GenotypeQuality
all individuals: 28345
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14938
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.446183953033268e-4
allele num: 8176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.56734e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.067e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 1.216e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13730
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7995
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7832
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5349
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.66716681671168e-5
allele num: 59982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.081782778018174e-4
allele num: 9244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14242
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 1.383561e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

GenotypeQuality
all individuals: 605
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7832
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13730
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7995
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 433
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5349
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.668667266846721e-5
allele num: 59982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.67000668002672e-4
allele num: 5988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

FS
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 1.383561e6

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 47

GenotypeQuality
all individuals: 886
bin: 7.5e0
variant carriers: 15

GenotypeQuality
all individuals: 448
bin: 2.5e0
variant carriers: 6

GenotypeQuality
all individuals: 639
bin: 1.75e1
variant carriers: 14

GenotypeQuality
all individuals: 6966
bin: 3.25e1
variant carriers: 25

GenotypeQuality
all individuals: 1002
bin: 4.75e1
variant carriers: 49

GenotypeQuality
all individuals: 1431
bin: 6.75e1
variant carriers: 31

GenotypeQuality
all individuals: 530
bin: 7.75e1
variant carriers: 67

GenotypeQuality
all individuals: 13186
bin: 2.25e1
variant carriers: 23

GenotypeQuality
all individuals: 593
bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1247
bin: 4.25e1
variant carriers: 19

East Asian
type: Population
allele count: 2
allele frequency: 2.59000259000259e-4
allele num: 7722
num of homozygotes: 0

Latino
type: Population
allele count: 339
allele frequency: 3.467675941080196e-2
allele num: 9776
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 5609
allele frequency: 9.429743451800544e-2
allele num: 59482
num of homozygotes: 243

African
type: Population
allele count: 414
allele frequency: 4.490238611713666e-2
allele num: 9220
num of homozygotes: 12

South Asian
type: Population
allele count: 1065
allele frequency: 7.495777027027027e-2
allele num: 14208
num of homozygotes: 46

European (Finnish)
type: Population
allele count: 391
allele frequency: 6.549413735343383e-2
allele num: 5970
num of homozygotes: 4

Other
type: Population
allele count: 63
allele frequency: 7.974683544303797e-2
allele num: 790
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.408885e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

FS
type: SiteQuality
SIO_000300: 9.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.263e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8752
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6265
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.305790385907821e-5
allele num: 56542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

QD
type: SiteQuality
SIO_000300: 9.15e0

VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 1.303496e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

GenotypeQuality
all individuals: 258
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 166
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1566
bin: 7.25e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38918
bin: 9.75e1
variant carriers: 364

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.02571860816944e-4
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.37328528984133e-4
allele num: 63276
num of homozygotes: 0

African
type: Population
allele count: 296
allele frequency: 3.303571428571429e-2
allele num: 8960
num of homozygotes: 7

Latino
type: Population
allele count: 36
allele frequency: 3.136434918975431e-3
allele num: 11478
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.225490196078431e-4
allele num: 16320
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.092e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 4.568907e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

GenotypeQuality
all individuals: 1809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 323
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 133
allele frequency: 1.484375e-2
allele num: 8960
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.227391531625719e-4
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.160756052847841e-5
allele num: 63276
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 4.568907e6

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

QD
type: SiteQuality
SIO_000300: 1.092e1

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1809
bin: 9.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63292
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.569633e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.766999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

GenotypeQuality
all individuals: 6308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.75e1
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GenotypeQuality
all individuals: 38852
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 4.570843e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.305e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.604e-1

QD
type: SiteQuality
SIO_000300: 1.681e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.009e1

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
all individuals: 1569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2112
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 4.572121e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.672e0

QD
type: SiteQuality
SIO_000300: 1.525e1

FS
type: SiteQuality
SIO_000300: 2.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.68e0

VQSLOD
type: SiteQuality
SIO_000300: 3.64e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
all individuals: 279
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
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GenotypeQuality
all individuals: 38852
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.579080343607883e-4
allele num: 63328
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.802e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

DP
type: SiteQuality
SIO_000300: 4.572695e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.519e1