6-33132086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132086
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132086
    reference: chr 6
allele count: 6
allele frequency: 5.258545135845749e-5
allele num: 114100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4950G>A
  hgvsp: ENST00000374714.1:c.4950G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4707G>A
  hgvsp: ENST00000361917.1:c.4707G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4770G>A
  hgvsp: ENST00000374708.4:c.4770G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4965G>A
  hgvsp: ENST00000357486.1:c.4965G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4887G>A
  hgvsp: ENST00000374713.1:c.4887G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4785G>A
  hgvsp: ENST00000374712.1:c.4785G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.5028G>A
  hgvsp: ENST00000341947.2:c.5028G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.818G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4848G>A
  hgvsp: ENST00000395197.1:c.4848G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1590Pro
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

6-33132087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132087
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132087
    reference: chr 6
allele count: 3
allele frequency: 2.629226481569122e-5
allele num: 114102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.5027C>T
  hgvsp: ENSP00000339915.2:p.Pro1676Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4949C>T
  hgvsp: ENSP00000363846.1:p.Pro1650Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4964C>T
  hgvsp: ENSP00000350079.1:p.Pro1655Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4886C>T
  hgvsp: ENSP00000363845.1:p.Pro1629Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4769C>T
  hgvsp: ENSP00000363840.4:p.Pro1590Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4784C>T
  hgvsp: ENSP00000363844.1:p.Pro1595Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4847C>T
  hgvsp: ENSP00000378623.1:p.Pro1616Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4706C>T
  hgvsp: ENSP00000355123.1:p.Pro1569Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.817C>T
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1590Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

6-33132105-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132105
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132105
    reference: chr 6
allele count: 1
allele frequency: 8.829554284099738e-6
allele num: 113256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4766A>G
  hgvsp: ENSP00000363844.1:p.Asn1589Ser
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4688A>G
  hgvsp: ENSP00000355123.1:p.Asn1563Ser
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4868A>G
  hgvsp: ENSP00000363845.1:p.Asn1623Ser
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4946A>G
  hgvsp: ENSP00000350079.1:p.Asn1649Ser
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.799A>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4829A>G
  hgvsp: ENSP00000378623.1:p.Asn1610Ser
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4931A>G
  hgvsp: ENSP00000363846.1:p.Asn1644Ser
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.5009A>G
  hgvsp: ENSP00000339915.2:p.Asn1670Ser
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4751A>G
  hgvsp: ENSP00000363840.4:p.Asn1584Ser
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn1584Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

6-33132111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132111
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132111
    reference: chr 6
allele count: 1
allele frequency: 8.871382693706642e-6
allele num: 112722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.5003G>A
  hgvsp: ENSP00000339915.2:p.Gly1668Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4682G>A
  hgvsp: ENSP00000355123.1:p.Gly1561Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4862G>A
  hgvsp: ENSP00000363845.1:p.Gly1621Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4940G>A
  hgvsp: ENSP00000350079.1:p.Gly1647Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4925G>A
  hgvsp: ENSP00000363846.1:p.Gly1642Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.793G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4823G>A
  hgvsp: ENSP00000378623.1:p.Gly1608Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4760G>A
  hgvsp: ENSP00000363844.1:p.Gly1587Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4745G>A
  hgvsp: ENSP00000363840.4:p.Gly1582Glu
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1582Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/6-33132113-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132113
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132113
    reference: chr 6
allele count: 4
allele frequency: 3.556124535481233e-5
allele num: 112482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4860T>G
  hgvsp: ENST00000374713.1:c.4860T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4758T>G
  hgvsp: ENST00000374712.1:c.4758T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4680T>G
  hgvsp: ENST00000361917.1:c.4680T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4938T>G
  hgvsp: ENST00000357486.1:c.4938T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4923T>G
  hgvsp: ENST00000374714.1:c.4923T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4821T>G
  hgvsp: ENST00000395197.1:c.4821T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4743T>G
  hgvsp: ENST00000374708.4:c.4743T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.791T>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.5001T>G
  hgvsp: ENST00000341947.2:c.5001T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1581Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

6-33132114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132114
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132114
    reference: chr 6
allele count: 237
allele frequency: 2.107678352275759e-3
allele num: 112446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4937G>A
  hgvsp: ENSP00000350079.1:p.Arg1646His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.790G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4742G>A
  hgvsp: ENSP00000363840.4:p.Arg1581His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.5000G>A
  hgvsp: ENSP00000339915.2:p.Arg1667His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4922G>A
  hgvsp: ENSP00000363846.1:p.Arg1641His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4679G>A
  hgvsp: ENSP00000355123.1:p.Arg1560His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4757G>A
  hgvsp: ENSP00000363844.1:p.Arg1586His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4820G>A
  hgvsp: ENSP00000378623.1:p.Arg1607His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4859G>A
  hgvsp: ENSP00000363845.1:p.Arg1620His
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16161
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34648
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1581His
num of homozygotes: 3
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

6-33132115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132115
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132115
    reference: chr 6
allele count: 1
allele frequency: 8.922039221284417e-6
allele num: 112082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.789C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4756C>T
  hgvsp: ENSP00000363844.1:p.Arg1586Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4741C>T
  hgvsp: ENSP00000363840.4:p.Arg1581Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4999C>T
  hgvsp: ENSP00000339915.2:p.Arg1667Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4858C>T
  hgvsp: ENSP00000363845.1:p.Arg1620Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4819C>T
  hgvsp: ENSP00000378623.1:p.Arg1607Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4936C>T
  hgvsp: ENSP00000350079.1:p.Arg1646Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4921C>T
  hgvsp: ENSP00000363846.1:p.Arg1641Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4678C>T
  hgvsp: ENSP00000355123.1:p.Arg1560Cys
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1581Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

6-33132131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132131
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132131
    reference: chr 6
allele count: 6
allele frequency: 5.581291510855612e-5
allele num: 107502
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4725C>T
  hgvsp: ENST00000374708.4:c.4725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4662C>T
  hgvsp: ENST00000361917.1:c.4662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4740C>T
  hgvsp: ENST00000374712.1:c.4740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4842C>T
  hgvsp: ENST00000374713.1:c.4842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4920C>T
  hgvsp: ENST00000357486.1:c.4920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4905C>T
  hgvsp: ENST00000374714.1:c.4905C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4983C>T
  hgvsp: ENST00000341947.2:c.4983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.773C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4803C>T
  hgvsp: ENST00000395197.1:c.4803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15382
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29575
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1575Asp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-33132135-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132135
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132135
    reference: chr 6
allele count: 2
allele frequency: 1.886792452830189e-5
allele num: 106000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4799G>A
  hgvsp: ENSP00000378623.1:p.Arg1600His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4721G>A
  hgvsp: ENSP00000363840.4:p.Arg1574His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.769G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4901G>A
  hgvsp: ENSP00000363846.1:p.Arg1634His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4658G>A
  hgvsp: ENSP00000355123.1:p.Arg1553His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4838G>A
  hgvsp: ENSP00000363845.1:p.Arg1613His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4736G>A
  hgvsp: ENSP00000363844.1:p.Arg1579His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4916G>A
  hgvsp: ENSP00000350079.1:p.Arg1639His
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4979G>A
  hgvsp: ENSP00000339915.2:p.Arg1660His
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9065
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1574His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-33132136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132136
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132136
    reference: chr 6
allele count: 1
allele frequency: 9.443762394938143e-6
allele num: 105890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4915C>T
  hgvsp: ENSP00000350079.1:p.Arg1639Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4735C>T
  hgvsp: ENSP00000363844.1:p.Arg1579Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4978C>T
  hgvsp: ENSP00000339915.2:p.Arg1660Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4837C>T
  hgvsp: ENSP00000363845.1:p.Arg1613Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4900C>T
  hgvsp: ENSP00000363846.1:p.Arg1634Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4798C>T
  hgvsp: ENSP00000378623.1:p.Arg1600Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4657C>T
  hgvsp: ENSP00000355123.1:p.Arg1553Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4720C>T
  hgvsp: ENSP00000363840.4:p.Arg1574Cys
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.768C>T
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39841
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1574Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-33132149-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132149
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132149
    reference: chr 6
allele count: 1
allele frequency: 1.040561070529229e-5
allele num: 96102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4785C>G
  hgvsp: ENSP00000378623.1:p.Cys1595Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4644C>G
  hgvsp: ENSP00000355123.1:p.Cys1548Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4887C>G
  hgvsp: ENSP00000363846.1:p.Cys1629Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4707C>G
  hgvsp: ENSP00000363840.4:p.Cys1569Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4965C>G
  hgvsp: ENSP00000339915.2:p.Cys1655Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.755C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4824C>G
  hgvsp: ENSP00000363845.1:p.Cys1608Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4902C>G
  hgvsp: ENSP00000350079.1:p.Cys1634Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4722C>G
  hgvsp: ENSP00000363844.1:p.Cys1574Trp
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12195
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys1569Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

6-33132155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132155
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132155
    reference: chr 6
allele count: 19
allele frequency: 2.125612512026492e-4
allele num: 89386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4881C>T
  hgvsp: ENST00000374714.1:c.4881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4779C>T
  hgvsp: ENST00000395197.1:c.4779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4896C>T
  hgvsp: ENST00000357486.1:c.4896C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.749C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4818C>T
  hgvsp: ENST00000374713.1:c.4818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4638C>T
  hgvsp: ENST00000361917.1:c.4638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4701C>T
  hgvsp: ENST00000374708.4:c.4701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4716C>T
  hgvsp: ENST00000374712.1:c.4716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4959C>T
  hgvsp: ENST00000341947.2:c.4959C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16359
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr1567Tyr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

6-33132155-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132155
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132155
    reference: chr 6
allele count: 1
allele frequency: 1.118743427382364e-5
allele num: 89386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4896C>G
  hgvsp: ENSP00000350079.1:p.Tyr1632Ter
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4716C>G
  hgvsp: ENSP00000363844.1:p.Tyr1572Ter
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4959C>G
  hgvsp: ENSP00000339915.2:p.Tyr1653Ter
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4701C>G
  hgvsp: ENSP00000363840.4:p.Tyr1567Ter
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4779C>G
  hgvsp: ENSP00000378623.1:p.Tyr1593Ter
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4638C>G
  hgvsp: ENSP00000355123.1:p.Tyr1546Ter
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.749C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4818C>G
  hgvsp: ENSP00000363845.1:p.Tyr1606Ter
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4881C>G
  hgvsp: ENSP00000363846.1:p.Tyr1627Ter
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr1567Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

6-33132163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132163
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132163
    reference: chr 6
allele count: 1
allele frequency: 1.226391954868776e-5
allele num: 81540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4630G>A
  hgvsp: ENSP00000355123.1:p.Val1544Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4888G>A
  hgvsp: ENSP00000350079.1:p.Val1630Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4771G>A
  hgvsp: ENSP00000378623.1:p.Val1591Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4693G>A
  hgvsp: ENSP00000363840.4:p.Val1565Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4810G>A
  hgvsp: ENSP00000363845.1:p.Val1604Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4708G>A
  hgvsp: ENSP00000363844.1:p.Val1570Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4873G>A
  hgvsp: ENSP00000363846.1:p.Val1625Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4951G>A
  hgvsp: ENSP00000339915.2:p.Val1651Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.741G>A
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val1565Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

6-33132164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132164
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132164
    reference: chr 6
allele count: 51
allele frequency: 6.418000604047116e-4
allele num: 79464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4950C>T
  hgvsp: ENST00000341947.2:c.4950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4707C>T
  hgvsp: ENST00000374712.1:c.4707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4887C>T
  hgvsp: ENST00000357486.1:c.4887C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4692C>T
  hgvsp: ENST00000374708.4:c.4692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4809C>T
  hgvsp: ENST00000374713.1:c.4809C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.740C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4629C>T
  hgvsp: ENST00000361917.1:c.4629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4872C>T
  hgvsp: ENST00000374714.1:c.4872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4770C>T
  hgvsp: ENST00000395197.1:c.4770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 11619
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16924
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16041
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1564Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

6-33132170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132170
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132170
    reference: chr 6
allele count: 3
allele frequency: 4.025980997369692e-5
allele num: 74516
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4686C>T
  hgvsp: ENST00000374708.4:c.4686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4866C>T
  hgvsp: ENST00000374714.1:c.4866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4623C>T
  hgvsp: ENST00000361917.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4944C>T
  hgvsp: ENST00000341947.2:c.4944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4803C>T
  hgvsp: ENST00000374713.1:c.4803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4764C>T
  hgvsp: ENST00000395197.1:c.4764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.734C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4881C>T
  hgvsp: ENST00000357486.1:c.4881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4701C>T
  hgvsp: ENST00000374712.1:c.4701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16840
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13595
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His1562His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

6-33132175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132175
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132175
    reference: chr 6
allele count: 1
allele frequency: 1.53003457878148e-5
allele num: 65358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4618G>A
  hgvsp: ENSP00000355123.1:p.Ala1540Thr
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4759G>A
  hgvsp: ENSP00000378623.1:p.Ala1587Thr
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4876G>A
  hgvsp: ENSP00000350079.1:p.Ala1626Thr
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4939G>A
  hgvsp: ENSP00000339915.2:p.Ala1647Thr
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4696G>A
  hgvsp: ENSP00000363844.1:p.Ala1566Thr
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4861G>A
  hgvsp: ENSP00000363846.1:p.Ala1621Thr
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4681G>A
  hgvsp: ENSP00000363840.4:p.Ala1561Thr
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.729G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4798G>A
  hgvsp: ENSP00000363845.1:p.Ala1600Thr
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1561Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/6-33132181-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132181
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132181
    reference: chr 6
allele count: 2
allele frequency: 3.283964401825884e-5
allele num: 60902
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4675G>T
  hgvsp: ENSP00000363840.4:p.Val1559Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4870G>T
  hgvsp: ENSP00000350079.1:p.Val1624Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4690G>T
  hgvsp: ENSP00000363844.1:p.Val1564Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4612G>T
  hgvsp: ENSP00000355123.1:p.Val1538Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4792G>T
  hgvsp: ENSP00000363845.1:p.Val1598Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4855G>T
  hgvsp: ENSP00000363846.1:p.Val1619Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4753G>T
  hgvsp: ENSP00000378623.1:p.Val1585Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.723G>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4933G>T
  hgvsp: ENSP00000339915.2:p.Val1645Phe
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Val1559Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

6-33132181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132181
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132181
    reference: chr 6
allele count: 2
allele frequency: 3.283964401825884e-5
allele num: 60902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.723G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4612G>A
  hgvsp: ENSP00000355123.1:p.Val1538Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4753G>A
  hgvsp: ENSP00000378623.1:p.Val1585Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4870G>A
  hgvsp: ENSP00000350079.1:p.Val1624Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4675G>A
  hgvsp: ENSP00000363840.4:p.Val1559Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4855G>A
  hgvsp: ENSP00000363846.1:p.Val1619Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4792G>A
  hgvsp: ENSP00000363845.1:p.Val1598Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4690G>A
  hgvsp: ENSP00000363844.1:p.Val1564Ile
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4933G>A
  hgvsp: ENSP00000339915.2:p.Val1645Ile
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23791
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val1559Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

6-33132182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132182
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132182
    reference: chr 6
allele count: 2
allele frequency: 3.311367926090268e-5
allele num: 60398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4752C>T
  hgvsp: ENST00000395197.1:c.4752C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4689C>T
  hgvsp: ENST00000374712.1:c.4689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4674C>T
  hgvsp: ENST00000374708.4:c.4674C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.722C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4611C>T
  hgvsp: ENST00000361917.1:c.4611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4869C>T
  hgvsp: ENST00000357486.1:c.4869C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4854C>T
  hgvsp: ENST00000374714.1:c.4854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4791C>T
  hgvsp: ENST00000374713.1:c.4791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4932C>T
  hgvsp: ENST00000341947.2:c.4932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32976
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1558Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

6-33132184-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132184
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132185
    reference: chr 6
allele count: 3
allele frequency: 5.173127327907298e-5
allele num: 57992
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.719dupC
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4866dupC
  hgvsp: ENSP00000350079.1:p.Ser1623GlnfsTer18
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4608dupC
  hgvsp: ENSP00000355123.1:p.Ser1537GlnfsTer18
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4851dupC
  hgvsp: ENSP00000363846.1:p.Ser1618GlnfsTer18
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4788dupC
  hgvsp: ENSP00000363845.1:p.Ser1597GlnfsTer18
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4686dupC
  hgvsp: ENSP00000363844.1:p.Ser1563GlnfsTer18
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4929dupC
  hgvsp: ENSP00000339915.2:p.Ser1644GlnfsTer18
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4749dupC
  hgvsp: ENSP00000378623.1:p.Ser1584GlnfsTer18
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4671dupC
  hgvsp: ENSP00000363840.4:p.Ser1558GlnfsTer18
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24751
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32827
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1558GlnfsTer18
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

6-33132185-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132185
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132185
    reference: chr 6
allele count: 1
allele frequency: 1.744348311470835e-5
allele num: 57328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4866C>T
  hgvsp: ENST00000357486.1:c.4866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4686C>T
  hgvsp: ENST00000374712.1:c.4686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4851C>T
  hgvsp: ENST00000374714.1:c.4851C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4608C>T
  hgvsp: ENST00000361917.1:c.4608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.719C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4749C>T
  hgvsp: ENST00000395197.1:c.4749C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4788C>T
  hgvsp: ENST00000374713.1:c.4788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4671C>T
  hgvsp: ENST00000374708.4:c.4671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4929C>T
  hgvsp: ENST00000341947.2:c.4929C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25014
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1557Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

6-33132190-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132190
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132190
    reference: chr 6
allele count: 2
allele frequency: 3.690854063630324e-5
allele num: 54188
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4666C>G
  hgvsp: ENSP00000363840.4:p.Leu1556Val
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4603C>G
  hgvsp: ENSP00000355123.1:p.Leu1535Val
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4846C>G
  hgvsp: ENSP00000363846.1:p.Leu1616Val
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4783C>G
  hgvsp: ENSP00000363845.1:p.Leu1595Val
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4744C>G
  hgvsp: ENSP00000378623.1:p.Leu1582Val
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4681C>G
  hgvsp: ENSP00000363844.1:p.Leu1561Val
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.714C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4924C>G
  hgvsp: ENSP00000339915.2:p.Leu1642Val
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4861C>G
  hgvsp: ENSP00000350079.1:p.Leu1621Val
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15227
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1556Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-33132192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132192
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132192
    reference: chr 6
allele count: 1
allele frequency: 1.880194036024518e-5
allele num: 53186
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4664G>A
  hgvsp: ENSP00000363840.4:p.Arg1555Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4844G>A
  hgvsp: ENSP00000363846.1:p.Arg1615Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4601G>A
  hgvsp: ENSP00000355123.1:p.Arg1534Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4922G>A
  hgvsp: ENSP00000339915.2:p.Arg1641Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4859G>A
  hgvsp: ENSP00000350079.1:p.Arg1620Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.712G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4781G>A
  hgvsp: ENSP00000363845.1:p.Arg1594Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4742G>A
  hgvsp: ENSP00000378623.1:p.Arg1581Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4679G>A
  hgvsp: ENSP00000363844.1:p.Arg1560Gln
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15045
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg1555Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

6-33132196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132196
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132196
    reference: chr 6
allele count: 3
allele frequency: 5.946717411988583e-5
allele num: 50448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.708C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4597C>T
  hgvsp: ENST00000361917.1:c.4597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4660C>T
  hgvsp: ENST00000374708.4:c.4660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4738C>T
  hgvsp: ENST00000395197.1:c.4738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4855C>T
  hgvsp: ENST00000357486.1:c.4855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4777C>T
  hgvsp: ENST00000374713.1:c.4777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4840C>T
  hgvsp: ENST00000374714.1:c.4840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4918C>T
  hgvsp: ENST00000341947.2:c.4918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4675C>T
  hgvsp: ENST00000374712.1:c.4675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14569
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1554Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

6-33132197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132197
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132197
    reference: chr 6
allele count: 1
allele frequency: 2.006098539560263e-5
allele num: 49848
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4659C>T
  hgvsp: ENST00000374708.4:c.4659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.707C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4776C>T
  hgvsp: ENST00000374713.1:c.4776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4854C>T
  hgvsp: ENST00000357486.1:c.4854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4839C>T
  hgvsp: ENST00000374714.1:c.4839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4917C>T
  hgvsp: ENST00000341947.2:c.4917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4737C>T
  hgvsp: ENST00000395197.1:c.4737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4596C>T
  hgvsp: ENST00000361917.1:c.4596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4674C>T
  hgvsp: ENST00000374712.1:c.4674C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14500
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe1553Phe
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

6-33132203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132203
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132203
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 46672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4731C>T
  hgvsp: ENST00000395197.1:c.4731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4653C>T
  hgvsp: ENST00000374708.4:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.701C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4848C>T
  hgvsp: ENST00000357486.1:c.4848C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4833C>T
  hgvsp: ENST00000374714.1:c.4833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4770C>T
  hgvsp: ENST00000374713.1:c.4770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4911C>T
  hgvsp: ENST00000341947.2:c.4911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4590C>T
  hgvsp: ENST00000361917.1:c.4590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4668C>T
  hgvsp: ENST00000374712.1:c.4668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27711
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1551Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

6-33132216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132216
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132216
    reference: chr 6
allele count: 4
allele frequency: 1.021763563911311e-4
allele num: 39148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4898G>A
  hgvsp: ENSP00000339915.2:p.Gly1633Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4718G>A
  hgvsp: ENSP00000378623.1:p.Gly1573Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4577G>A
  hgvsp: ENSP00000355123.1:p.Gly1526Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.688G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4757G>A
  hgvsp: ENSP00000363845.1:p.Gly1586Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4655G>A
  hgvsp: ENSP00000363844.1:p.Gly1552Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4835G>A
  hgvsp: ENSP00000350079.1:p.Gly1612Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4820G>A
  hgvsp: ENSP00000363846.1:p.Gly1607Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4640G>A
  hgvsp: ENSP00000363840.4:p.Gly1547Asp
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26961
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12793
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1547Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

6-33132217-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132217
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132217
    reference: chr 6
allele count: 1
allele frequency: 2.610012006055228e-5
allele num: 38314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.687G>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4819G>C
  hgvsp: ENSP00000363846.1:p.Gly1607Arg
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4897G>C
  hgvsp: ENSP00000339915.2:p.Gly1633Arg
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4654G>C
  hgvsp: ENSP00000363844.1:p.Gly1552Arg
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4576G>C
  hgvsp: ENSP00000355123.1:p.Gly1526Arg
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4834G>C
  hgvsp: ENSP00000350079.1:p.Gly1612Arg
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4717G>C
  hgvsp: ENSP00000378623.1:p.Gly1573Arg
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4756G>C
  hgvsp: ENSP00000363845.1:p.Gly1586Arg
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4639G>C
  hgvsp: ENSP00000363840.4:p.Gly1547Arg
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly1547Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-33132225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132225
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132225
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 32552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.679C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4889C>T
  hgvsp: ENSP00000339915.2:p.Ser1630Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4709C>T
  hgvsp: ENSP00000378623.1:p.Ser1570Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4748C>T
  hgvsp: ENSP00000363845.1:p.Ser1583Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4646C>T
  hgvsp: ENSP00000363844.1:p.Ser1549Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4826C>T
  hgvsp: ENSP00000350079.1:p.Ser1609Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4631C>T
  hgvsp: ENSP00000363840.4:p.Ser1544Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4811C>T
  hgvsp: ENSP00000363846.1:p.Ser1604Phe
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4568C>T
  hgvsp: ENSP00000355123.1:p.Ser1523Phe
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25124
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1544Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

6-33132230-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132230
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132230
    reference: chr 6
allele count: 66
allele frequency: 2.169482611268161e-3
allele num: 30422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4806G>C
  hgvsp: ENSP00000363846.1:p.Glu1602Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4641G>C
  hgvsp: ENSP00000363844.1:p.Glu1547Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4563G>C
  hgvsp: ENSP00000355123.1:p.Glu1521Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4743G>C
  hgvsp: ENSP00000363845.1:p.Glu1581Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.674G>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4626G>C
  hgvsp: ENSP00000363840.4:p.Glu1542Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4884G>C
  hgvsp: ENSP00000339915.2:p.Glu1628Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4821G>C
  hgvsp: ENSP00000350079.1:p.Glu1607Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4704G>C
  hgvsp: ENSP00000378623.1:p.Glu1568Asp
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10488
  bin: 1.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18314
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24473
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Glu1542Asp
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

6-33132234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132234
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132234
    reference: chr 6
allele count: 1
allele frequency: 3.632137149498765e-5
allele num: 27532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4739C>T
  hgvsp: ENSP00000363845.1:p.Ser1580Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4802C>T
  hgvsp: ENSP00000363846.1:p.Ser1601Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.670C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4637C>T
  hgvsp: ENSP00000363844.1:p.Ser1546Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4559C>T
  hgvsp: ENSP00000355123.1:p.Ser1520Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4622C>T
  hgvsp: ENSP00000363840.4:p.Ser1541Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4817C>T
  hgvsp: ENSP00000350079.1:p.Ser1606Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4700C>T
  hgvsp: ENSP00000378623.1:p.Ser1567Leu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4880C>T
  hgvsp: ENSP00000339915.2:p.Ser1627Leu
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21804
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1541Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

6-33132241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132241
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132241
    reference: chr 6
allele count: 1
allele frequency: 4.465880671668453e-5
allele num: 22392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4615G>A
  hgvsp: ENSP00000363840.4:p.Val1539Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4810G>A
  hgvsp: ENSP00000350079.1:p.Val1604Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4693G>A
  hgvsp: ENSP00000378623.1:p.Val1565Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4732G>A
  hgvsp: ENSP00000363845.1:p.Val1578Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4795G>A
  hgvsp: ENSP00000363846.1:p.Val1599Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4630G>A
  hgvsp: ENSP00000363844.1:p.Val1544Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.663G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4552G>A
  hgvsp: ENSP00000355123.1:p.Val1518Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4873G>A
  hgvsp: ENSP00000339915.2:p.Val1625Met
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val1539Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

6-33132242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132242
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132242
    reference: chr 6
allele count: 6
allele frequency: 2.681684097613301e-4
allele num: 22374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4872C>T
  hgvsp: ENST00000341947.2:c.4872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4614C>T
  hgvsp: ENST00000374708.4:c.4614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4809C>T
  hgvsp: ENST00000357486.1:c.4809C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4629C>T
  hgvsp: ENST00000374712.1:c.4629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4794C>T
  hgvsp: ENST00000374714.1:c.4794C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4551C>T
  hgvsp: ENST00000361917.1:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4731C>T
  hgvsp: ENST00000374713.1:c.4731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4692C>T
  hgvsp: ENST00000395197.1:c.4692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.662C>T
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20371
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr1538Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

6-33132254-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132254
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132254
    reference: chr 6
allele count: 1
allele frequency: 6.36213258684311e-5
allele num: 15718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-4C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-4C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-4C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-4C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-4C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-4C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-4C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-4C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-4C>A
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 1.75e1
  variant carriers: 0
hgvs: c.4606-4C>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-33132256-AGGAGAGAGAGGGCTGGCCTCAGAGGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132256
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132230
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 14644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33805
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13650
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: AGGAGAGAGAGGGCTGGCCTCAGAGGG
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

6-33132257-GGAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132257
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132253
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 14078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-11_4801-8delTCTC
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-11_654-8delTCTC
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-11_4786-8delTCTC
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-11_4621-8delTCTC
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-11_4684-8delTCTC
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-11_4606-8delTCTC
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-11_4864-8delTCTC
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-11_4723-8delTCTC
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-11_4543-8delTCTC
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11822
  bin: 2.25e1
  variant carriers: 0
hgvs: c.4606-11_4606-8delTCTC
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: GGAGA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

6-33132259-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132259
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132259
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 14108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-9T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-9T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-9T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-9T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-9T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-9T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-9T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-9T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-9T>C
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13177
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

6-33132260-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132260
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132260
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 13692
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-10C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-10C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-10C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-10C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-10C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-10C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-10C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-10C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-10C>G
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34706
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

6-33132272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132272
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132272
    reference: chr 6
allele count: 2
allele frequency: 2.13903743315508e-4
allele num: 9350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-22C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-22C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-22C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-22C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-22C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-22C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-22C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-22C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-22C>T
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36654
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6242
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

6-33132274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132274
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132274
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 9056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-24G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-24G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-24G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-24G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-24G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-24G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-24G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-24G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-24G>A
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

6-33132276-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132276
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132276
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 8684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-26G>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-26G>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-26G>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-26G>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-26G>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-26G>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-26G>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-26G>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-26G>C
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36677
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34009
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

6-33132280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132280
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132280
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 8052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-30C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-30C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-30C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-30C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-30C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-30C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-30C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-30C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-30C>T
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5132
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

6-33132280-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132280
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132280
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 8052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-30C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-30C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-30C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-30C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-30C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-30C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-30C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-30C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-30C>G
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5132
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33026
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

6-33132281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132281
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132281
    reference: chr 6
allele count: 1
allele frequency: 1.246261216350947e-4
allele num: 8024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-31C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-31C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-31C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-31C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-31C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-31C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-31C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-31C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-31C>T
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4720
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

6-33132281-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132281
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132281
    reference: chr 6
allele count: 7
allele frequency: 8.72382851445663e-4
allele num: 8024
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-31C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-31C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-31C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-31C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-31C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-31C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-31C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-31C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-31C>G
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36387
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5259
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

6-33132301-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132301
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132301
    reference: chr 6
allele count: 10
allele frequency: 1.547987616099071e-3
allele num: 6460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4543-51A>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4864-51A>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.654-51A>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4606-51A>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4621-51A>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4786-51A>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4684-51A>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4723-51A>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4801-51A>G
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34293
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9887
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

6-33132583-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132583
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132583
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 19606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4683+46C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4722+46C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4800+46C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4542+46C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4620+46C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.653+46C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4863+46C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4785+46C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4605+46C>G
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35705
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8648
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

6-33132584-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132584
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132584
    reference: chr 6
allele count: 1
allele frequency: 5.092168245238823e-5
allele num: 19638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4722+45C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4863+45C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4620+45C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4542+45C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4785+45C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4605+45C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4683+45C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.653+45C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4800+45C>A
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25818
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

6-33132586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132586
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132586
    reference: chr 6
allele count: 1
allele frequency: 5.093205663644698e-5
allele num: 19634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4785+43C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4800+43C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.653+43C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4605+43C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4542+43C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4620+43C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4863+43C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4722+43C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4683+43C>T
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25904
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8225
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

6-33132589-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132589
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132589
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 19700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4620+40G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.653+40G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4542+40G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4683+40G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4800+40G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4722+40G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4863+40G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4785+40G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4605+40G>A
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27785
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

6-33132591-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132591
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132591
    reference: chr 6
allele count: 1
allele frequency: 5.069965524234435e-5
allele num: 19724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.653+38T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4542+38T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4785+38T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4722+38T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4620+38T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4863+38T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4800+38T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4605+38T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4683+38T>C
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

6-33132606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132606
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132606
    reference: chr 6
allele count: 536
allele frequency: 2.638834186687672e-2
allele num: 20312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4722+23C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4863+23C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4785+23C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4542+23C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4800+23C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4605+23C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4620+23C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.653+23C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4683+23C>T
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 7.5e0
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 36550
  bin: 2.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 30805
  bin: 7.5e0
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4587
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 21
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

6-33132622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132622
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132622
    reference: chr 6
allele count: 6
allele frequency: 2.846029788445119e-4
allele num: 21082
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4605+7G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4620+7G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4785+7G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4542+7G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.653+7G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4722+7G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4800+7G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4683+7G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4863+7G>A
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34118
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12344
  bin: 7.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31939
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9832
  bin: 2.25e1
  variant carriers: 2
hgvs: c.4605+7G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

6-33132626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132626
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132626
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 21318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4785+3G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4683+3G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4863+3G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4800+3G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.653+3G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4620+3G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4722+3G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4605+3G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4542+3G>A
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
hgvs: c.4605+3G>A
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

6-33132632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132632
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132632
    reference: chr 6
allele count: 2
allele frequency: 9.211495946941784e-5
allele num: 21712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4617G>A
  hgvsp: ENST00000374712.1:c.4617G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4602G>A
  hgvsp: ENST00000374708.4:c.4602G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4797G>A
  hgvsp: ENST00000357486.1:c.4797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4719G>A
  hgvsp: ENST00000374713.1:c.4719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4860G>A
  hgvsp: ENST00000341947.2:c.4860G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4782G>A
  hgvsp: ENST00000374714.1:c.4782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4539G>A
  hgvsp: ENST00000361917.1:c.4539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4680G>A
  hgvsp: ENST00000395197.1:c.4680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.650G>A
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29327
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18266
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Thr1534Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

6-33132633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132633
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132633
    reference: chr 6
allele count: 4
allele frequency: 1.829658768639649e-4
allele num: 21862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4616C>T
  hgvsp: ENSP00000363844.1:p.Thr1539Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4781C>T
  hgvsp: ENSP00000363846.1:p.Thr1594Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.649C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4796C>T
  hgvsp: ENSP00000350079.1:p.Thr1599Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4601C>T
  hgvsp: ENSP00000363840.4:p.Thr1534Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4859C>T
  hgvsp: ENSP00000339915.2:p.Thr1620Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4718C>T
  hgvsp: ENSP00000363845.1:p.Thr1573Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4679C>T
  hgvsp: ENSP00000378623.1:p.Thr1560Met
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4538C>T
  hgvsp: ENSP00000355123.1:p.Thr1513Met
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1534Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

6-33132636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132636
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132636
    reference: chr 6
allele count: 1
allele frequency: 4.519161243673174e-5
allele num: 22128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4856T>C
  hgvsp: ENSP00000339915.2:p.Val1619Ala
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4793T>C
  hgvsp: ENSP00000350079.1:p.Val1598Ala
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4778T>C
  hgvsp: ENSP00000363846.1:p.Val1593Ala
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4613T>C
  hgvsp: ENSP00000363844.1:p.Val1538Ala
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.646T>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4676T>C
  hgvsp: ENSP00000378623.1:p.Val1559Ala
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4715T>C
  hgvsp: ENSP00000363845.1:p.Val1572Ala
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4535T>C
  hgvsp: ENSP00000355123.1:p.Val1512Ala
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4598T>C
  hgvsp: ENSP00000363840.4:p.Val1533Ala
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1533Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

6-33132638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132638
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132638
    reference: chr 6
allele count: 21
allele frequency: 9.402704396883675e-4
allele num: 22334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4791C>T
  hgvsp: ENST00000357486.1:c.4791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.644C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4776C>T
  hgvsp: ENST00000374714.1:c.4776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4674C>T
  hgvsp: ENST00000395197.1:c.4674C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4596C>T
  hgvsp: ENST00000374708.4:c.4596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4713C>T
  hgvsp: ENST00000374713.1:c.4713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4533C>T
  hgvsp: ENST00000361917.1:c.4533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4854C>T
  hgvsp: ENST00000341947.2:c.4854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4611C>T
  hgvsp: ENST00000374712.1:c.4611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21997
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1532Asp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

6-33132638-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132638
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132638
    reference: chr 6
allele count: 8
allele frequency: 3.581982627384257e-4
allele num: 22334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4713C>G
  hgvsp: ENSP00000363845.1:p.Asp1571Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4854C>G
  hgvsp: ENSP00000339915.2:p.Asp1618Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4776C>G
  hgvsp: ENSP00000363846.1:p.Asp1592Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4674C>G
  hgvsp: ENSP00000378623.1:p.Asp1558Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.644C>G
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4596C>G
  hgvsp: ENSP00000363840.4:p.Asp1532Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4533C>G
  hgvsp: ENSP00000355123.1:p.Asp1511Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4791C>G
  hgvsp: ENSP00000350079.1:p.Asp1597Glu
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4611C>G
  hgvsp: ENSP00000363844.1:p.Asp1537Glu
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25871
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21997
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1532Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

6-33132652-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132652
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132652
    reference: chr 6
allele count: 2
allele frequency: 8.299443937256204e-5
allele num: 24098
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4582A>C
  hgvsp: ENSP00000363840.4:p.Thr1528Pro
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4699A>C
  hgvsp: ENSP00000363845.1:p.Thr1567Pro
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4519A>C
  hgvsp: ENSP00000355123.1:p.Thr1507Pro
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4777A>C
  hgvsp: ENSP00000350079.1:p.Thr1593Pro
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4762A>C
  hgvsp: ENSP00000363846.1:p.Thr1588Pro
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4840A>C
  hgvsp: ENSP00000339915.2:p.Thr1614Pro
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.630A>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4597A>C
  hgvsp: ENSP00000363844.1:p.Thr1533Pro
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4660A>C
  hgvsp: ENSP00000378623.1:p.Thr1554Pro
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27969
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18984
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr1528Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

6-33132659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132659
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132659
    reference: chr 6
allele count: 1
allele frequency: 3.976459360585335e-5
allele num: 25148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4512C>A
  hgvsp: ENST00000361917.1:c.4512C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4833C>A
  hgvsp: ENST00000341947.2:c.4833C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4770C>A
  hgvsp: ENST00000357486.1:c.4770C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4653C>A
  hgvsp: ENST00000395197.1:c.4653C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.623C>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4692C>A
  hgvsp: ENST00000374713.1:c.4692C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4755C>A
  hgvsp: ENST00000374714.1:c.4755C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4590C>A
  hgvsp: ENST00000374712.1:c.4590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4575C>A
  hgvsp: ENST00000374708.4:c.4575C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr1525Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

6-33132666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132666
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132666
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 26252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4685G>A
  hgvsp: ENSP00000363845.1:p.Gly1562Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.616G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4763G>A
  hgvsp: ENSP00000350079.1:p.Gly1588Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4748G>A
  hgvsp: ENSP00000363846.1:p.Gly1583Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4826G>A
  hgvsp: ENSP00000339915.2:p.Gly1609Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4505G>A
  hgvsp: ENSP00000355123.1:p.Gly1502Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4583G>A
  hgvsp: ENSP00000363844.1:p.Gly1528Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4568G>A
  hgvsp: ENSP00000363840.4:p.Gly1523Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4646G>A
  hgvsp: ENSP00000378623.1:p.Gly1549Asp
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31719
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6163
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1523Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

6-33132671-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132671
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132671
    reference: chr 6
allele count: 1
allele frequency: 3.660590087122044e-5
allele num: 27318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4680A>C
  hgvsp: ENST00000374713.1:c.4680A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4500A>C
  hgvsp: ENST00000361917.1:c.4500A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.611A>C
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4743A>C
  hgvsp: ENST00000374714.1:c.4743A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4758A>C
  hgvsp: ENST00000357486.1:c.4758A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4578A>C
  hgvsp: ENST00000374712.1:c.4578A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4563A>C
  hgvsp: ENST00000374708.4:c.4563A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4821A>C
  hgvsp: ENST00000341947.2:c.4821A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4641A>C
  hgvsp: ENST00000395197.1:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1521Ala
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: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

6-33132693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132693
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132693
    reference: chr 6
allele count: 163
allele frequency: 5.40773671289231e-3
allele num: 30142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4619G>A
  hgvsp: ENSP00000378623.1:p.Arg1540Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4556G>A
  hgvsp: ENSP00000363844.1:p.Arg1519Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4478G>A
  hgvsp: ENSP00000355123.1:p.Arg1493Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4721G>A
  hgvsp: ENSP00000363846.1:p.Arg1574Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.589G>A
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4799G>A
  hgvsp: ENSP00000339915.2:p.Arg1600Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4658G>A
  hgvsp: ENSP00000363845.1:p.Arg1553Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4736G>A
  hgvsp: ENSP00000350079.1:p.Arg1579Gln
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4541G>A
  hgvsp: ENSP00000363840.4:p.Arg1514Gln
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 1.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33381
  bin: 7.5e0
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11529
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6818
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 30921
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1514Gln
num of homozygotes: 1
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

6-33132704-CCGAGCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132704
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132698
    reference: chr 6
allele count: 1
allele frequency: 3.306878306878307e-5
allele num: 30240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4641_4646delTGCTCG
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4524_4529delTGCTCG
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4704_4709delTGCTCG
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4782_4787delTGCTCG
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4461_4466delTGCTCG
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4719_4724delTGCTCG
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4539_4544delTGCTCG
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.572_577delTGCTCG
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4602_4607delTGCTCG
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30118
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys1508_Arg1510delinsTrp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: CCGAGCA
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

6-33132706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132706
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132706
    reference: chr 6
allele count: 1
allele frequency: 3.286230693394676e-5
allele num: 30430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4465C>T
  hgvsp: ENSP00000355123.1:p.Arg1489Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4645C>T
  hgvsp: ENSP00000363845.1:p.Arg1549Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4606C>T
  hgvsp: ENSP00000378623.1:p.Arg1536Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4786C>T
  hgvsp: ENSP00000339915.2:p.Arg1596Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4708C>T
  hgvsp: ENSP00000363846.1:p.Arg1570Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4723C>T
  hgvsp: ENSP00000350079.1:p.Arg1575Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4543C>T
  hgvsp: ENSP00000363844.1:p.Arg1515Trp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.576C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4528C>T
  hgvsp: ENSP00000363840.4:p.Arg1510Trp
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32608
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1510Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

6-33132722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132722
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132722
    reference: chr 6
allele count: 7
allele frequency: 2.323728588500863e-4
allele num: 30124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4707C>T
  hgvsp: ENST00000357486.1:c.4707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4629C>T
  hgvsp: ENST00000374713.1:c.4629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4512C>T
  hgvsp: ENST00000374708.4:c.4512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4692C>T
  hgvsp: ENST00000374714.1:c.4692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.560C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4590C>T
  hgvsp: ENST00000395197.1:c.4590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4449C>T
  hgvsp: ENST00000361917.1:c.4449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4527C>T
  hgvsp: ENST00000374712.1:c.4527C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4770C>T
  hgvsp: ENST00000341947.2:c.4770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30067
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1504Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

6-33132728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132728
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132728
    reference: chr 6
allele count: 1
allele frequency: 3.350083752093803e-5
allele num: 29850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4584C>T
  hgvsp: ENST00000395197.1:c.4584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4686C>T
  hgvsp: ENST00000374714.1:c.4686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.554C>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4623C>T
  hgvsp: ENST00000374713.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4443C>T
  hgvsp: ENST00000361917.1:c.4443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4701C>T
  hgvsp: ENST00000357486.1:c.4701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4521C>T
  hgvsp: ENST00000374712.1:c.4521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4764C>T
  hgvsp: ENST00000341947.2:c.4764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4506C>T
  hgvsp: ENST00000374708.4:c.4506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28835
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1502Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/6-33132737-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33132737
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 33132737
    reference: chr 6
allele count: 1
allele frequency: 3.404834865509023e-5
allele num: 29370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000339915
  ensembl transcript: ENST00000341947
  gene symbol: COL11A2
  hgvsc: ENST00000341947.2:c.4755G>T
  hgvsp: ENSP00000339915.2:p.Glu1585Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000378623
  ensembl transcript: ENST00000395197
  gene symbol: COL11A2
  hgvsc: ENST00000395197.1:c.4575G>T
  hgvsp: ENSP00000378623.1:p.Glu1525Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204248
  ensembl transcript: ENST00000477772
  gene symbol: COL11A2
  hgvsc: ENST00000477772.1:n.545G>T
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363845
  ensembl transcript: ENST00000374713
  gene symbol: COL11A2
  hgvsc: ENST00000374713.1:c.4614G>T
  hgvsp: ENSP00000363845.1:p.Glu1538Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363840
  ensembl transcript: ENST00000374708
  gene symbol: COL11A2
  hgvsc: ENST00000374708.4:c.4497G>T
  hgvsp: ENSP00000363840.4:p.Glu1499Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000355123
  ensembl transcript: ENST00000361917
  gene symbol: COL11A2
  hgvsc: ENST00000361917.1:c.4434G>T
  hgvsp: ENSP00000355123.1:p.Glu1478Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363846
  ensembl transcript: ENST00000374714
  gene symbol: COL11A2
  hgvsc: ENST00000374714.1:c.4677G>T
  hgvsp: ENSP00000363846.1:p.Glu1559Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000363844
  ensembl transcript: ENST00000374712
  gene symbol: COL11A2
  hgvsc: ENST00000374712.1:c.4512G>T
  hgvsp: ENSP00000363844.1:p.Glu1504Asp
  variant of: http://identifiers.org/hgnc/2187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204248
  ensembl protein: ENSP00000350079
  ensembl transcript: ENST00000357486
  gene symbol: COL11A2
  hgvsc: ENST00000357486.1:c.4692G>T
  hgvsp: ENSP00000350079.1:p.Glu1564Asp
  variant of: http://identifiers.org/hgnc/2187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu1499Asp
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.265005662514156e-4
allele num: 8830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.382842918235782e-5
allele num: 62668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.05e-1

DP
type: SiteQuality
SIO_000300: 1.363429e6

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.107e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 1.1593e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

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

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.788966221824915e-5
allele num: 62644
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

DP
type: SiteQuality
SIO_000300: 1.363115e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

FS
type: SiteQuality
SIO_000300: 6.774e0

QD
type: SiteQuality
SIO_000300: 8.92e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 158
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 690
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47687
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180080245456691e-4
allele num: 8474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.350234e6

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
all individuals: 2817
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47174
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4273
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615039245453664e-5
allele num: 61918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15706
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.354e0

FS
type: SiteQuality
SIO_000300: 8.901999999999999e0

QD
type: SiteQuality
SIO_000300: 1.01e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.341e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

DP
type: SiteQuality
SIO_000300: 1.344311e6

GenotypeQuality
all individuals: 453
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.550044625780951e-4
allele num: 15686
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.340482e6

QD
type: SiteQuality
SIO_000300: 8.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 230

East Asian
type: Population
allele count: 1
allele frequency: 1.184834123222749e-4
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 110
allele frequency: 1.780165717244951e-3
allele num: 61792
num of homozygotes: 1

Latino
type: Population
allele count: 29
allele frequency: 2.602764315203734e-3
allele num: 11142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 93
allele frequency: 5.928853754940711e-3
allele num: 15686
num of homozygotes: 2

Other
type: Population
allele count: 3
allele frequency: 3.685503685503686e-3
allele num: 814
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.216e1

DP
type: SiteQuality
SIO_000300: 1.345536e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 199
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.390593047034765e-5
allele num: 15648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61558
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.738e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.336614e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 2.147e0

QD
type: SiteQuality
SIO_000300: 1.091e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 854
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40778
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GenotypeQuality
all individuals: 85
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.389830508474576e-5
allele num: 59000
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.610259122157589e-5
allele num: 15128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5596
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.667481662591687e-4
allele num: 8180
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.267572e6

QD
type: SiteQuality
SIO_000300: 8.65e0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 2.577e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

GenotypeQuality
all individuals: 960
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.477700693756194e-4
allele num: 8072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10456
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.244906e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

FS
type: SiteQuality
SIO_000300: 4.414e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.136e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.238543472875898e-4
allele num: 8074
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58100
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.885e0

MQRankSum
type: SiteQuality
SIO_000300: -1.197e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.435e1

VQSLOD
type: SiteQuality
SIO_000300: -1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.2444e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.509e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.087172218284904e-5
allele num: 14110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.101843e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.861e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.186e0

QD
type: SiteQuality
SIO_000300: 1.673e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 59
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 3.919465302417691e-4
allele num: 48476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 1.01137e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

QD
type: SiteQuality
SIO_000300: 1.156e1

GenotypeQuality
all individuals: 1331
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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: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.06287647495668e-5
allele num: 48476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.156e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

FS
type: SiteQuality
SIO_000300: 6.41e-1

DP
type: SiteQuality
SIO_000300: 1.01137e6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.567889620570712e-4
allele num: 6378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43948
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.416e0

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.747e1

DP
type: SiteQuality
SIO_000300: 9.10873e5

GenotypeQuality
all individuals: 352
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 188
bin: 9.75e1
variant carriers: 50

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.810059356451109e-5
allele num: 12804
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.848093083387201e-4
allele num: 6188
num of homozygotes: 0

East Asian
type: Population
allele count: 47
allele frequency: 7.804716041182332e-3
allele num: 6022
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

FS
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

QD
type: SiteQuality
SIO_000300: 1.259e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.88298e5

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
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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
all individuals: 30936
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variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.368647100930566e-4
allele num: 5588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12378
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

DP
type: SiteQuality
SIO_000300: 8.34127e5

QD
type: SiteQuality
SIO_000300: 1.184e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.809e0

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

FS
type: SiteQuality
SIO_000300: 1.591e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2866
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.960015680125441e-4
allele num: 5102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

DP
type: SiteQuality
SIO_000300: 7.58904e5

QD
type: SiteQuality
SIO_000300: 1.006e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.798884691491275e-4
allele num: 11118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.24671e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 2
allele frequency: 4.192872117400419e-4
allele num: 4770
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32302
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South Asian
type: Population
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allele num: 11118
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Other
type: Population
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allele frequency: 0.0e0
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.024e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 9.023641941887746e-5
allele num: 11082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2488
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.12343828085957e-5
allele num: 32016
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4730
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.94e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

FS
type: SiteQuality
SIO_000300: 9.712e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.22473e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.753e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.78218338333116e-5
allele num: 30668
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.436e1

DP
type: SiteQuality
SIO_000300: 7.05416e5

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30304
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.209456473707468e-4
allele num: 4526
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 3.469e0

QD
type: SiteQuality
SIO_000300: 1.31e1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.965e0

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 7.0033e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.998390370214851e-5
allele num: 28578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

FS
type: SiteQuality
SIO_000300: 1.518e0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 6.80981e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.564808213318123e-5
allele num: 28052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

MQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

QD
type: SiteQuality
SIO_000300: 6.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 6.7565e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 2.851e0

VQSLOD
type: SiteQuality
SIO_000300: -2.165e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4110
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26470
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2026
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 7.488766849725411e-4
allele num: 4006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.03e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.55722e5

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.82262996941896e-5
allele num: 26160
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1992
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 6.51078e5

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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QD
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VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

European (Non-Finnish)
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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
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.78e-2

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.866e1

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1450
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
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Latino
type: Population
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 2.977963073257892e-4
allele num: 3358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.48529557381919e-4
allele num: 20198
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.393e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 6.74e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 19770
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.230920728705071e-4
allele num: 8124
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.559e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.68e-2

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2190
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.00558e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 74

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

East Asian
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allele count: 20
allele frequency: 9.891196834817012e-3
allele num: 2022
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African
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allele count: 1
allele frequency: 3.644314868804665e-4
allele num: 2744
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1902
num of homozygotes: 0

South Asian
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allele count: 45
allele frequency: 6.489760599942314e-3
allele num: 6934
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.83172e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.54e-2

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1804
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.543686322939179e-4
allele num: 6478
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.5247e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.016e0

QD
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SIO_000300: 1.028e1

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.32e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 672
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1180
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 9.064539521392314e-5
allele num: 11032
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.06913e5

QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 7.41e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 1180
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 4.184100418410041e-3
allele num: 1434
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African
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South Asian
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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allele count: 0
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Latino
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allele frequency: 0.0e0
allele num: 600
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European (Finnish)
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num of homozygotes: 0

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

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

European (Finnish)
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Latino
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allele frequency: 0.0e0
allele num: 564
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African
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Other
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East Asian
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South Asian
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QD
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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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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QD
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DP
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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Other
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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DP
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FS
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MQ
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Latino
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European (Finnish)
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East Asian
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Other
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QD
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InbreedingCoeff
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DP
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FS
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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South Asian
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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MQ
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Other
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Latino
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European (Finnish)
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South Asian
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Other
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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South Asian
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 6.25e1
variant carriers: 3

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

GenotypeQuality
all individuals: 195
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 525
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 59
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 1
allele frequency: 8.460236886632825e-4
allele num: 1182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.655337227827934e-4
allele num: 3766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 2.347417840375587e-3
allele num: 2130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.433e0

QD
type: SiteQuality
SIO_000300: 1.179e1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

DP
type: SiteQuality
SIO_000300: 2.23931e5

FS
type: SiteQuality
SIO_000300: 4.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.41e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

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

GenotypeQuality
all individuals: 305
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2667
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26187
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.191176470588236e-3
allele num: 1088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3260
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.470000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.0254e5

QD
type: SiteQuality
SIO_000300: 1.332e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

GenotypeQuality
all individuals: 251
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25377
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.580000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.411e1

DP
type: SiteQuality
SIO_000300: 3.69461e5

GenotypeQuality
all individuals: 2663
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8280
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.230012300123001e-4
allele num: 8130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.580000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.959e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.191e0

DP
type: SiteQuality
SIO_000300: 3.70993e5

QD
type: SiteQuality
SIO_000300: 1.423e1

GenotypeQuality
all individuals: 465
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.23334977799704e-4
allele num: 8108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2560
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.464e0

VQSLOD
type: SiteQuality
SIO_000300: -7.105e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.56e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.272e0

MQRankSum
type: SiteQuality
SIO_000300: 8.86e-1

QD
type: SiteQuality
SIO_000300: 8.43e0

DP
type: SiteQuality
SIO_000300: 3.72914e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 3298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6712
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

FS
type: SiteQuality
SIO_000300: 9.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

VQSLOD
type: SiteQuality
SIO_000300: -1.751e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

DP
type: SiteQuality
SIO_000300: 3.78792e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.12e-1

GenotypeQuality
all individuals: 250
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.283038234539389e-4
allele num: 7794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2572
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

DP
type: SiteQuality
SIO_000300: 3.81294e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.389999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.122e0

FS
type: SiteQuality
SIO_000300: 3.212e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3167
bin: 2.25e1
variant carriers: 12

GenotypeQuality
all individuals: 1464
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 272
bin: 2.75e1
variant carriers: 10

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

GenotypeQuality
all individuals: 1316
bin: 1.75e1
variant carriers: 12

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 567
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 284
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 532
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2337
bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1509
bin: 9.75e1
variant carriers: 519

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 430
bin: 8.25e1
variant carriers: 3

Latino
type: Population
allele count: 3
allele frequency: 7.978723404255319e-3
allele num: 376
num of homozygotes: 1

African
type: Population
allele count: 3
allele frequency: 1.100513573000734e-3
allele num: 2726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 5.885122410546139e-4
allele num: 8496
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.757188498402556e-2
allele num: 626
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.063829787234043e-2
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 512
allele frequency: 6.537282941777324e-2
allele num: 7832
num of homozygotes: 20

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.976e0

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

DP
type: SiteQuality
SIO_000300: 4.16272e5

QD
type: SiteQuality
SIO_000300: 1.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1551
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 5053
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1545
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1659
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1063
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 473
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 247
bin: 2.75e1
variant carriers: 10

GenotypeQuality
all individuals: 598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.408450704225352e-2
allele num: 426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.77e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 4.68383e5

FS
type: SiteQuality
SIO_000300: 2.389e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9092
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2864
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.278e1

FS
type: SiteQuality
SIO_000300: 3.424e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 4.83529e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.63e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.809e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.076426264800861e-4
allele num: 9290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.259445843828715e-3
allele num: 794
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 1.1963e1

DP
type: SiteQuality
SIO_000300: 5.06484e5

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

BaseQRankSum
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SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

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

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.066098081023454e-4
allele num: 9380
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.77453447408153e-4
allele num: 7948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.188000000000001e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.94e-2

DP
type: SiteQuality
SIO_000300: 5.12079e5

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.37609723160027e-4
allele num: 2962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.67e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.22936e5

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.868e0

QD
type: SiteQuality
SIO_000300: 1.007e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 20

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.033484911120298e-4
allele num: 9676
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-3
allele num: 862
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 2.382743917732631e-3
allele num: 7974
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 1.967e0

QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

DP
type: SiteQuality
SIO_000300: 5.32039e5

GenotypeQuality
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variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 8.267879288962381e-4
allele num: 9676
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 5.32039e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1088
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.854255516410161e-4
allele num: 10786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
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VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 0.0e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.52e-2

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.123e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

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

South Asian
type: Population
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African
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1208
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12096
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
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SIO_000300: -6.882e-1

BaseQRankSum
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SIO_000300: 1.59e0

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.589e0

DP
type: SiteQuality
SIO_000300: 6.11805e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.83e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.652e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12728
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.472222222222222e-3
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 6.24785e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 145

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 4

Other
type: Population
allele count: 2
allele frequency: 7.8125e-3
allele num: 256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 8.875739644970414e-3
allele num: 338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3714
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.532423208191126e-4
allele num: 1172
num of homozygotes: 0

East Asian
type: Population
allele count: 115
allele frequency: 5.903490759753593e-2
allele num: 1948
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 8.34144306965105e-4
allele num: 14386
num of homozygotes: 0

South Asian
type: Population
allele count: 30
allele frequency: 3.602305475504323e-3
allele num: 8328
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

QD
type: SiteQuality
SIO_000300: 1.14e1

DP
type: SiteQuality
SIO_000300: 6.56521e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3732
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.199904007679386e-4
allele num: 8334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

MQ
type: SiteQuality
SIO_000300: 5.845e1

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 6.48685e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

FS
type: SiteQuality
SIO_000300: 1.465e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1252
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.199328376109379e-4
allele num: 8338
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.416e0

QD
type: SiteQuality
SIO_000300: 6.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

FS
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 6.50335e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14478
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3714
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 8.425613866153105e-4
allele num: 8308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.764e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.986e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.29542e5

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.20598166907863e-4
allele num: 8292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.628e-1

DP
type: SiteQuality
SIO_000300: 6.20145e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.96e-2

MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 4.229e0

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0