21-46888590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888590
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888590
    reference: chr 21
allele count: 1
allele frequency: 8.361204013377926e-6
allele num: 119600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1786G>A
  hgvsp: ENSP00000352798.4:p.Glu596Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1081G>A
  hgvsp: ENSP00000347665.5:p.Glu361Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.541G>A
  hgvsp: ENSP00000383191.2:p.Glu181Lys
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45781
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu361Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-46888594-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888594
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888594
    reference: chr 21
allele count: 1
allele frequency: 8.374507997655138e-6
allele num: 119410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.545A>C
  hgvsp: ENSP00000383191.2:p.Glu182Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1085A>C
  hgvsp: ENSP00000347665.5:p.Glu362Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1790A>C
  hgvsp: ENSP00000352798.4:p.Glu597Ala
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu362Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

21-46888596-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888596
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888596
    reference: chr 21
allele count: 6
allele frequency: 5.030012407363938e-5
allele num: 119284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.547T>C
  hgvsp: ENSP00000383191.2:p.Phe183Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1792T>C
  hgvsp: ENSP00000352798.4:p.Phe598Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1087T>C
  hgvsp: ENSP00000347665.5:p.Phe363Leu
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45486
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe363Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

21-46888602-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888602
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888602
    reference: chr 21
allele count: 1
allele frequency: 8.4088730428348e-6
allele num: 118922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.553A>G
  hgvsp: ENSP00000383191.2:p.Arg185Gly
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1798A>G
  hgvsp: ENSP00000352798.4:p.Arg600Gly
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1093A>G
  hgvsp: ENSP00000347665.5:p.Arg365Gly
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8289
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg365Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

21-46888609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888609
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888609
    reference: chr 21
allele count: 2
allele frequency: 1.691675266015936e-5
allele num: 118226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1805C>T
  hgvsp: ENSP00000352798.4:p.Pro602Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1100C>T
  hgvsp: ENSP00000347665.5:p.Pro367Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.560C>T
  hgvsp: ENSP00000383191.2:p.Pro187Leu
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28789
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro367Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

21-46888610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888610
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888610
    reference: chr 21
allele count: 31
allele frequency: 2.62476080808765e-4
allele num: 118106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.561G>A
  hgvsp: ENST00000400337.2:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1806G>A
  hgvsp: ENST00000359759.4:c.1806G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1101G>A
  hgvsp: ENST00000355480.5:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20145
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28761
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro367Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

21-46888615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888615
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888615
    reference: chr 21
allele count: 1
allele frequency: 8.510348583877996e-6
allele num: 117504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.566C>T
  hgvsp: ENSP00000383191.2:p.Ala189Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1106C>T
  hgvsp: ENSP00000347665.5:p.Ala369Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1811C>T
  hgvsp: ENSP00000352798.4:p.Ala604Val
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala369Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

21-46888617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888617
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888617
    reference: chr 21
allele count: 1
allele frequency: 8.570449091532397e-6
allele num: 116680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.568C>T
  hgvsp: ENSP00000383191.2:p.Arg190Trp
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1813C>T
  hgvsp: ENSP00000352798.4:p.Arg605Trp
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1108C>T
  hgvsp: ENSP00000347665.5:p.Arg370Trp
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42108
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg370Trp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

21-46888618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888618
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888618
    reference: chr 21
allele count: 2
allele frequency: 1.71694452552238e-5
allele num: 116486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.569G>A
  hgvsp: ENSP00000383191.2:p.Arg190Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1109G>A
  hgvsp: ENSP00000347665.5:p.Arg370Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1814G>A
  hgvsp: ENSP00000352798.4:p.Arg605Gln
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg370Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

21-46888622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888622
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888622
    reference: chr 21
allele count: 2
allele frequency: 1.724821912137572e-5
allele num: 115954
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1113C>T
  hgvsp: ENST00000355480.5:c.1113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.573C>T
  hgvsp: ENST00000400337.2:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1818C>T
  hgvsp: ENST00000359759.4:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19370
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41265
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser371Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

21-46888626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888626
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888626
    reference: chr 21
allele count: 4
allele frequency: 3.463443355383923e-5
allele num: 115492
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1117C>T
  hgvsp: ENSP00000347665.5:p.Arg373Trp
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1822C>T
  hgvsp: ENSP00000352798.4:p.Arg608Trp
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.577C>T
  hgvsp: ENSP00000383191.2:p.Arg193Trp
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg373Trp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

21-46888627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888627
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888627
    reference: chr 21
allele count: 82
allele frequency: 7.12164110402807e-4
allele num: 115142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1823G>A
  hgvsp: ENSP00000352798.4:p.Arg608Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1118G>A
  hgvsp: ENSP00000347665.5:p.Arg373Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.578G>A
  hgvsp: ENSP00000383191.2:p.Arg193Gln
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19416
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26828
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg373Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

21-46888634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888634
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888634
    reference: chr 21
allele count: 1
allele frequency: 8.798634451933061e-6
allele num: 113654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.585G>A
  hgvsp: ENST00000400337.2:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1830G>A
  hgvsp: ENST00000359759.4:c.1830G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1125G>A
  hgvsp: ENST00000355480.5:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40107
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu375Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

21-46888640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888640
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888640
    reference: chr 21
allele count: 1
allele frequency: 8.965875876414367e-6
allele num: 111534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1836G>A
  hgvsp: ENST00000359759.4:c.1836G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1131G>A
  hgvsp: ENST00000355480.5:c.1131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.591G>A
  hgvsp: ENST00000400337.2:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu377Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

21-46888647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888647
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888647
    reference: chr 21
allele count: 3
allele frequency: 2.732837778749454e-5
allele num: 109776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.598G>A
  hgvsp: ENSP00000383191.2:p.Gly200Ser
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1843G>A
  hgvsp: ENSP00000352798.4:p.Gly615Ser
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1138G>A
  hgvsp: ENSP00000347665.5:p.Gly380Ser
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23870
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly380Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

21-46888649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888649
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888649
    reference: chr 21
allele count: 3
allele frequency: 2.751536274419884e-5
allele num: 109030
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1140C>T
  hgvsp: ENST00000355480.5:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.600C>T
  hgvsp: ENST00000400337.2:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1845C>T
  hgvsp: ENST00000359759.4:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly380Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

21-46888650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888650
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888650
    reference: chr 21
allele count: 3
allele frequency: 2.762532689970165e-5
allele num: 108596
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1141G>A
  hgvsp: ENSP00000347665.5:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1846G>A
  hgvsp: ENSP00000352798.4:p.Ala616Thr
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.601G>A
  hgvsp: ENSP00000383191.2:p.Ala201Thr
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23261
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala381Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-46888652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888652
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888652
    reference: chr 21
allele count: 1106
allele frequency: 1.031427772078709e-2
allele num: 107230
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1143C>T
  hgvsp: ENST00000355480.5:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1848C>T
  hgvsp: ENST00000359759.4:c.1848C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.603C>T
  hgvsp: ENST00000400337.2:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 1.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 17017
  bin: 2.25e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 22535
  bin: 2.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 3.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34392
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 9.75e1
  variant carriers: 999
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 10141
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 5715
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 4
hgvs: p.Ala381Ala
num of homozygotes: 50
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

21-46888653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888653
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888653
    reference: chr 21
allele count: 86
allele frequency: 8.035730971202183e-4
allele num: 107022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.604G>A
  hgvsp: ENSP00000383191.2:p.Gly202Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1849G>A
  hgvsp: ENSP00000352798.4:p.Gly617Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1144G>A
  hgvsp: ENSP00000347665.5:p.Gly382Arg
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16947
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22605
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5727
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35222
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly382Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

21-46888654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888654
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888654
    reference: chr 21
allele count: 1
allele frequency: 9.523265337218826e-6
allele num: 105006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.605G>A
  hgvsp: ENSP00000383191.2:p.Gly202Glu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1850G>A
  hgvsp: ENSP00000352798.4:p.Gly617Glu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1145G>A
  hgvsp: ENSP00000347665.5:p.Gly382Glu
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly382Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

21-46888657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888657
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888657
    reference: chr 21
allele count: 1
allele frequency: 9.530162965786716e-6
allele num: 104930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1853T>C
  hgvsp: ENSP00000352798.4:p.Leu618Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1148T>C
  hgvsp: ENSP00000347665.5:p.Leu383Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.608T>C
  hgvsp: ENSP00000383191.2:p.Leu203Pro
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu383Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

21-46888658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888658
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888658
    reference: chr 21
allele count: 6
allele frequency: 5.721805801911083e-5
allele num: 104862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1854C>T
  hgvsp: ENST00000359759.4:c.1854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1149C>T
  hgvsp: ENST00000355480.5:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.609C>T
  hgvsp: ENST00000400337.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21252
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu383Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

21-46888661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888661
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888661
    reference: chr 21
allele count: 224
allele frequency: 2.169113374908006e-3
allele num: 103268
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1152C>T
  hgvsp: ENST00000355480.5:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1857C>T
  hgvsp: ENST00000359759.4:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.612C>T
  hgvsp: ENST00000400337.2:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 15796
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20479
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.75e1
  variant carriers: 220
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32607
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Phe384Phe
num of homozygotes: 2
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

21-46888662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888662
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888662
    reference: chr 21
allele count: 7
allele frequency: 6.831401022758325e-5
allele num: 102468
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1153G>A
  hgvsp: ENSP00000347665.5:p.Val385Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1858G>A
  hgvsp: ENSP00000352798.4:p.Val620Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.613G>A
  hgvsp: ENSP00000383191.2:p.Val205Met
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15525
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20112
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val385Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

21-46888663-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888663
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888663
    reference: chr 21
allele count: 2
allele frequency: 1.97017160194653e-5
allele num: 101514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1859T>A
  hgvsp: ENSP00000352798.4:p.Val620Glu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1154T>A
  hgvsp: ENSP00000347665.5:p.Val385Glu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.614T>A
  hgvsp: ENSP00000383191.2:p.Val205Glu
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15025
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val385Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/21-46888672-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888672
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888672
    reference: chr 21
allele count: 1
allele frequency: 1.07774879831009e-5
allele num: 92786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.623C>A
  hgvsp: ENSP00000383191.2:p.Ala208Glu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1868C>A
  hgvsp: ENSP00000352798.4:p.Ala623Glu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1163C>A
  hgvsp: ENSP00000347665.5:p.Ala388Glu
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala388Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

21-46888672-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888672
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888673
    reference: chr 21
allele count: 1
allele frequency: 1.07774879831009e-5
allele num: 92786
alternate allele: CG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1169dupG
  hgvsp: ENSP00000347665.5:p.Ala391SerfsTer4
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1874dupG
  hgvsp: ENSP00000352798.4:p.Ala626SerfsTer4
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.629dupG
  hgvsp: ENSP00000383191.2:p.Ala211SerfsTer4
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala391SerfsTer4
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-46888672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888672
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888672
    reference: chr 21
allele count: 1
allele frequency: 1.07774879831009e-5
allele num: 92786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.623C>T
  hgvsp: ENSP00000383191.2:p.Ala208Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1163C>T
  hgvsp: ENSP00000347665.5:p.Ala388Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1868C>T
  hgvsp: ENSP00000352798.4:p.Ala623Val
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12528
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala388Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

21-46888673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888673
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888673
    reference: chr 21
allele count: 1076
allele frequency: 1.161786300423253e-2
allele num: 92616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1869G>A
  hgvsp: ENST00000359759.4:c.1869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.624G>A
  hgvsp: ENST00000400337.2:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1164G>A
  hgvsp: ENST00000355480.5:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11969
  bin: 7.5e0
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 1.25e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 14637
  bin: 2.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.75e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 2.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 3.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 35
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 quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 23304
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 9.75e1
  variant carriers: 933
genotype quality: GenotypeQuality
  all individuals: 21321
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 6.75e1
  variant carriers: 9
hgvs: p.Ala388Ala
num of homozygotes: 47
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

21-46888673-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888673
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888673
    reference: chr 21
allele count: 6
allele frequency: 6.47836227001814e-5
allele num: 92616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1869G>C
  hgvsp: ENST00000359759.4:c.1869G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1164G>C
  hgvsp: ENST00000355480.5:c.1164G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.624G>C
  hgvsp: ENST00000400337.2:c.624G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  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: 14637
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala388Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

21-46888674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888674
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888674
    reference: chr 21
allele count: 16
allele frequency: 1.735094454204351e-4
allele num: 92214
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1165G>A
  hgvsp: ENSP00000347665.5:p.Gly389Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.625G>A
  hgvsp: ENSP00000383191.2:p.Gly209Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1870G>A
  hgvsp: ENSP00000352798.4:p.Gly624Arg
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14661
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly389Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

21-46888675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888675
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888675
    reference: chr 21
allele count: 1
allele frequency: 1.08771319178559e-5
allele num: 91936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1871G>A
  hgvsp: ENSP00000352798.4:p.Gly624Glu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.626G>A
  hgvsp: ENSP00000383191.2:p.Gly209Glu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1166G>A
  hgvsp: ENSP00000347665.5:p.Gly389Glu
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  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: 1349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly389Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

21-46888680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888680
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888680
    reference: chr 21
allele count: 1
allele frequency: 1.136621959536258e-5
allele num: 87980
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1171G>A
  hgvsp: ENSP00000347665.5:p.Ala391Thr
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1876G>A
  hgvsp: ENSP00000352798.4:p.Ala626Thr
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.631G>A
  hgvsp: ENSP00000383191.2:p.Ala211Thr
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15510
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala391Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

21-46888681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888681
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888681
    reference: chr 21
allele count: 4
allele frequency: 4.626630887387804e-5
allele num: 86456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1877C>T
  hgvsp: ENSP00000352798.4:p.Ala626Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1172C>T
  hgvsp: ENSP00000347665.5:p.Ala391Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.632C>T
  hgvsp: ENSP00000383191.2:p.Ala211Val
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16070
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  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: 11399
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala391Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

21-46888682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888682
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888682
    reference: chr 21
allele count: 4
allele frequency: 4.632417658776115e-5
allele num: 86348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.633G>A
  hgvsp: ENST00000400337.2:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1878G>A
  hgvsp: ENST00000359759.4:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1173G>A
  hgvsp: ENST00000355480.5:c.1173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11637
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16133
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11148
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala391Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

21-46888702-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888702
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888702
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 71164
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+2T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+2T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+2T>C
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice donor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19359
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  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: 4302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7394
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1191+2T>C
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

21-46888706-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888706
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888706
    reference: chr 21
allele count: 7
allele frequency: 1.057849241370973e-4
allele num: 66172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+6C>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+6C>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+6C>G
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24050
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19880
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
hgvs: c.1191+6C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

21-46888706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888706
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888706
    reference: chr 21
allele count: 2
allele frequency: 3.022426403917065e-5
allele num: 66172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+6C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+6C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+6C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  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: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4736
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1191+6C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

21-46888712-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888712
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888712
    reference: chr 21
allele count: 3
allele frequency: 4.970508317317251e-5
allele num: 60356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+12T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+12T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+12T>C
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23858
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

21-46888716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888716
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888716
    reference: chr 21
allele count: 2
allele frequency: 3.642191142191142e-5
allele num: 54912
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+16C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+16C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+16C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

21-46888717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888717
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888717
    reference: chr 21
allele count: 5
allele frequency: 9.362594562205078e-5
allele num: 53404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+17C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+17C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+17C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21443
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22680
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34254
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11658
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

21-46888718-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888718
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888718
    reference: chr 21
allele count: 21
allele frequency: 4.212806933076553e-4
allele num: 49848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+18G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+18G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+18G>A
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21799
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21867
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

21-46888720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888720
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888720
    reference: chr 21
allele count: 3
allele frequency: 6.234932247069581e-5
allele num: 48116
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+20C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+20C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+20C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21153
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-46888726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888726
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888726
    reference: chr 21
allele count: 2
allele frequency: 4.690431519699812e-5
allele num: 42640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+26G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+26G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+26G>A
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18955
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22706
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-46888726-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888726
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888726
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 42640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+26G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+26G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+26G>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22706
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

21-46888729-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888729
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888729
    reference: chr 21
allele count: 1
allele frequency: 2.606066923798603e-5
allele num: 38372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+29A>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+29A>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+29A>G
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

21-46888739-CTGGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888739
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888734
    reference: chr 21
allele count: 146
allele frequency: 5.604606525911708e-3
allele num: 26050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+44_1896+48delATGGG
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+44_1191+48delATGGG
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+44_651+48delATGGG
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18401
  bin: 2.5e0
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11973
  bin: 1.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25679
  bin: 7.5e0
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18617
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.75e1
  variant carriers: 271
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6241
  bin: 1.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 1.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 21554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 7
num of homozygotes: 3
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: CTGGGA
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-46888742-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888742
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888742
    reference: chr 21
allele count: 1
allele frequency: 4.671150971599402e-5
allele num: 21408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+42G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+42G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+42G>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7429
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

21-46888744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46888744
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46888744
    reference: chr 21
allele count: 1
allele frequency: 4.686474833630143e-5
allele num: 21338
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1191+44A>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1896+44A>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.651+44A>G
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27011
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  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: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4869
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21800
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7403
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

21-46893759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893759
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893759
    reference: chr 21
allele count: 2
allele frequency: 7.424456158586383e-5
allele num: 26938
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-50C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-50C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-50C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21379
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24200
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15010
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7668
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10248
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

21-46893764-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893764
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893764
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 27096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-45G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-45G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-45G>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21055
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7916
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15589
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

21-46893767-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893767
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893767
    reference: chr 21
allele count: 5826
allele frequency: 2.005369681949608e-1
allele num: 29052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-42A>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-42A>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-42A>G
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 17902
  bin: 2.5e0
  variant carriers: 1139
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 25529
  bin: 7.5e0
  variant carriers: 6187
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 2.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 338
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 1.25e1
  variant carriers: 2063
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 746
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 153
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.75e1
  variant carriers: 343
genotype quality: GenotypeQuality
  all individuals: 11129
  bin: 2.25e1
  variant carriers: 801
genotype quality: GenotypeQuality
  all individuals: 6034
  bin: 9.75e1
  variant carriers: 5235
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.75e1
  variant carriers: 528
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 2.75e1
  variant carriers: 494
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 420
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.75e1
  variant carriers: 638
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 198
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 6.25e1
  variant carriers: 392
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 2.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.25e1
  variant carriers: 168
genotype quality: GenotypeQuality
  all individuals: 5274
  bin: 1.25e1
  variant carriers: 425
genotype quality: GenotypeQuality
  all individuals: 11998
  bin: 7.5e0
  variant carriers: 390
genotype quality: GenotypeQuality
  all individuals: 5303
  bin: 1.75e1
  variant carriers: 854
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 8.25e1
  variant carriers: 539
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.75e1
  variant carriers: 226
num of homozygotes: 636
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

21-46893768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893768
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893768
    reference: chr 21
allele count: 1
allele frequency: 3.423953982058481e-5
allele num: 29206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-41C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-41C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-41C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15016
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6649
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14596
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

21-46893777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893777
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893777
    reference: chr 21
allele count: 5
allele frequency: 1.675041876046901e-4
allele num: 29850
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-32C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-32C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-32C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27856
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

21-46893778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893778
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893778
    reference: chr 21
allele count: 5
allele frequency: 1.666111296234589e-4
allele num: 30010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-31G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-31G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-31G>A
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28483
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4413
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13401
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

21-46893778-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893778
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893778
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 30010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-31G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-31G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-31G>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28483
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13401
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  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: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

21-46893787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893787
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893787
    reference: chr 21
allele count: 2
allele frequency: 6.251953735542357e-5
allele num: 31990
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-22C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-22C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-22C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

21-46893789-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893789
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893790
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 32822
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-17dupT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-17dupT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-17dupT
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 10376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32973
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

21-46893791-TTCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893791
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893787
    reference: chr 21
allele count: 1
allele frequency: 2.993653454676087e-5
allele num: 33404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-16_652-13delCTCT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-16_1897-13delCTCT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-16_1192-13delCTCT
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33612
  bin: 7.5e0
  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: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8742
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: TTCTC
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/21-46893803-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893803
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893803
    reference: chr 21
allele count: 1
allele frequency: 2.588393642905213e-5
allele num: 38634
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1192-6A>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.652-6A>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1897-6A>C
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5467
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1192-6A>C
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

21-46893811-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893811
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893811
    reference: chr 21
allele count: 3
allele frequency: 6.86027898467871e-5
allele num: 43730
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1194G>T
  hgvsp: ENST00000355480.5:c.1194G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.654G>T
  hgvsp: ENST00000400337.2:c.654G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1899G>T
  hgvsp: ENST00000359759.4:c.1899G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1194G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

21-46893814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893814
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893814
    reference: chr 21
allele count: 1
allele frequency: 2.186557047273363e-5
allele num: 45734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1902G>A
  hgvsp: ENST00000359759.4:c.1902G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.657G>A
  hgvsp: ENST00000400337.2:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1197G>A
  hgvsp: ENST00000355480.5:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3843
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val399Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

21-46893817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893817
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893817
    reference: chr 21
allele count: 2
allele frequency: 4.250074376301585e-5
allele num: 47058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.660C>T
  hgvsp: ENST00000400337.2:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1905C>T
  hgvsp: ENST00000359759.4:c.1905C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1200C>T
  hgvsp: ENST00000355480.5:c.1200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile400Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

21-46893818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893818
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893818
    reference: chr 21
allele count: 2
allele frequency: 4.178854993731717e-5
allele num: 47860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.661G>A
  hgvsp: ENSP00000383191.2:p.Ala221Thr
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1201G>A
  hgvsp: ENSP00000347665.5:p.Ala401Thr
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1906G>A
  hgvsp: ENSP00000352798.4:p.Ala636Thr
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32400
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala401Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/21-46893822-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893822
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893822
    reference: chr 21
allele count: 1
allele frequency: 1.990604347479895e-5
allele num: 50236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.665A>C
  hgvsp: ENSP00000383191.2:p.Glu222Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1910A>C
  hgvsp: ENSP00000352798.4:p.Glu637Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1205A>C
  hgvsp: ENSP00000347665.5:p.Glu402Ala
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu402Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

21-46893824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893824
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893824
    reference: chr 21
allele count: 114
allele frequency: 2.233542319749217e-3
allele num: 51040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1207C>T
  hgvsp: ENST00000355480.5:c.1207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.667C>T
  hgvsp: ENST00000400337.2:c.667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1912C>T
  hgvsp: ENST00000359759.4:c.1912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 1.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 31311
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13548
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 31790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu403Leu
num of homozygotes: 1
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-46893832-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893832
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893832
    reference: chr 21
allele count: 1
allele frequency: 1.856665428889714e-5
allele num: 53860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.675G>A
  hgvsp: ENST00000400337.2:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1215G>A
  hgvsp: ENST00000355480.5:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1920G>A
  hgvsp: ENST00000359759.4:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30238
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val405Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

21-46893833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893833
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893833
    reference: chr 21
allele count: 2
allele frequency: 3.703292226789616e-5
allele num: 54006
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1216C>T
  hgvsp: ENSP00000347665.5:p.Arg406Cys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1921C>T
  hgvsp: ENSP00000352798.4:p.Arg641Cys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.676C>T
  hgvsp: ENSP00000383191.2:p.Arg226Cys
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg406Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

21-46893834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893834
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893834
    reference: chr 21
allele count: 5
allele frequency: 9.178353770467729e-5
allele num: 54476
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1217G>A
  hgvsp: ENSP00000347665.5:p.Arg406His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1922G>A
  hgvsp: ENSP00000352798.4:p.Arg641His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.677G>A
  hgvsp: ENSP00000383191.2:p.Arg226His
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29718
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12406
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14833
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg406His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

21-46893839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893839
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893839
    reference: chr 21
allele count: 5
allele frequency: 8.907575001781514e-5
allele num: 56132
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1222G>A
  hgvsp: ENSP00000347665.5:p.Asp408Asn
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1927G>A
  hgvsp: ENSP00000352798.4:p.Asp643Asn
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.682G>A
  hgvsp: ENSP00000383191.2:p.Asp228Asn
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29227
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 30874
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp408Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/21-46893840-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893840
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893841
    reference: chr 21
allele count: 1
allele frequency: 1.770475549732658e-5
allele num: 56482
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1933dupC
  hgvsp: ENSP00000352798.4:p.Gln645ProfsTer14
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.688dupC
  hgvsp: ENSP00000383191.2:p.Gln230ProfsTer14
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1228dupC
  hgvsp: ENSP00000347665.5:p.Gln410ProfsTer14
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln410ProfsTer14
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

21-46893841-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893841
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893841
    reference: chr 21
allele count: 1
allele frequency: 1.759819794453048e-5
allele num: 56824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.684C>G
  hgvsp: ENSP00000383191.2:p.Asp228Glu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1929C>G
  hgvsp: ENSP00000352798.4:p.Asp643Glu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1224C>G
  hgvsp: ENSP00000347665.5:p.Asp408Glu
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28865
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp408Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

21-46893842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893842
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893842
    reference: chr 21
allele count: 1
allele frequency: 1.75457065656034e-5
allele num: 56994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1930C>T
  hgvsp: ENSP00000352798.4:p.Pro644Ser
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.685C>T
  hgvsp: ENSP00000383191.2:p.Pro229Ser
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1225C>T
  hgvsp: ENSP00000347665.5:p.Pro409Ser
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro409Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

21-46893847-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893847
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893847
    reference: chr 21
allele count: 1
allele frequency: 1.745566261695294e-5
allele num: 57288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.690G>C
  hgvsp: ENSP00000383191.2:p.Gln230His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1935G>C
  hgvsp: ENSP00000352798.4:p.Gln645His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1230G>C
  hgvsp: ENSP00000347665.5:p.Gln410His
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15674
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln410His
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

21-46893848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893848
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893848
    reference: chr 21
allele count: 107
allele frequency: 1.866322472615642e-3
allele num: 57332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1936G>A
  hgvsp: ENSP00000352798.4:p.Val646Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.691G>A
  hgvsp: ENSP00000383191.2:p.Val231Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1231G>A
  hgvsp: ENSP00000347665.5:p.Val411Met
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28623
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12443
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31182
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 9.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Val411Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

21-46893848-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46893848
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46893848
    reference: chr 21
allele count: 2
allele frequency: 3.488453219842322e-5
allele num: 57332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.1936G>T
  hgvsp: ENSP00000352798.4:p.Val646Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.691G>T
  hgvsp: ENSP00000383191.2:p.Val231Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.1231G>T
  hgvsp: ENSP00000347665.5:p.Val411Leu
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12443
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val411Leu
num of homozygotes: 0
population: East Asian
reference allele: G

GenotypeQuality
all individuals: 8461
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 4.209e0

QD
type: SiteQuality
SIO_000300: 1.396e1

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 1.556779e6

MQRankSum
type: SiteQuality
SIO_000300: -5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.5538e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.243e0

GenotypeQuality
all individuals: 261
bin: 9.75e1
variant carriers: 6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.604100130790523e-5
allele num: 65754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 3.101e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.551978e6

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65516
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.636e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.928e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

DP
type: SiteQuality
SIO_000300: 1.54553e6

GenotypeQuality
all individuals: 155
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.104377104377104e-4
allele num: 9504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.237e1

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 3.691e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.532805e6

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 31
allele frequency: 2.715011385531617e-3
allele num: 11418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.677e0

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.331e0

QD
type: SiteQuality
SIO_000300: 1.344e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 1.531487e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
all individuals: 564
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545977366891349e-5
allele num: 64684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.349e0

QD
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 1.51855e6

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

FS
type: SiteQuality
SIO_000300: 9.914999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

GenotypeQuality
all individuals: 237
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55724430048586e-5
allele num: 64216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.049e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.503881e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.752e0

MQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

QD
type: SiteQuality
SIO_000300: 6.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.125949522175937e-5
allele num: 16324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.904719501335708e-5
allele num: 11230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.88e-2

FS
type: SiteQuality
SIO_000300: 1.687e0

QD
type: SiteQuality
SIO_000300: 1.255e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

DP
type: SiteQuality
SIO_000300: 1.499561e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
all individuals: 3625
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63806
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.147766323024055e-4
allele num: 9312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.487194e6

QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.85e-1

FS
type: SiteQuality
SIO_000300: 3.097e0

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 647
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57331655129012e-5
allele num: 63560
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.230466346745417e-4
allele num: 16254
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.002520705797624e-5
allele num: 11108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

DP
type: SiteQuality
SIO_000300: 1.478357e6

GenotypeQuality
all individuals: 289
bin: 9.75e1
variant carriers: 81

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.043226623259179e-5
allele num: 11058
num of homozygotes: 0

East Asian
type: Population
allele count: 74
allele frequency: 8.883553421368547e-3
allele num: 8330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.156067539845353e-5
allele num: 63370
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.849112426035503e-4
allele num: 16224
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.162162162162162e-4
allele num: 9250
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

FS
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 1.4722e6

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

GenotypeQuality
all individuals: 439
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.09962612711678e-4
allele num: 9094
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

QD
type: SiteQuality
SIO_000300: 1.675e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.389e0

MQ
type: SiteQuality
SIO_000300: 5.432e1

VQSLOD
type: SiteQuality
SIO_000300: -3.624e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

FS
type: SiteQuality
SIO_000300: 2.805e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.44369e6

GenotypeQuality
all individuals: 37574
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.2672348959639e-5
allele num: 15956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8942
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61342
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.408726e6

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.02e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.236e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.584052137243626e-5
allele num: 10434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8784
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.308738378056447e-5
allele num: 60446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.378479e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

FS
type: SiteQuality
SIO_000300: 8.561e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.449e0

QD
type: SiteQuality
SIO_000300: 1.489e1

GenotypeQuality
all individuals: 6041
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.328562393902073e-5
allele num: 60086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.266e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

DP
type: SiteQuality
SIO_000300: 1.366843e6

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.009e0

GenotypeQuality
all individuals: 781
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.671458180116333e-5
allele num: 59828
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.366182836771072e-5
allele num: 15708
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.279099513942185e-4
allele num: 7818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

QD
type: SiteQuality
SIO_000300: 9.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.328e0

DP
type: SiteQuality
SIO_000300: 1.360565e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

GenotypeQuality
all individuals: 763
bin: 3.75e1
variant carriers: 4

South Asian
type: Population
allele count: 3
allele frequency: 1.924310455420141e-4
allele num: 15590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 5.082506014298784e-4
allele num: 59026
num of homozygotes: 0

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

Latino
type: Population
allele count: 76
allele frequency: 7.512850929221036e-3
allele num: 10116
num of homozygotes: 0

African
type: Population
allele count: 992
allele frequency: 1.155100139729856e-1
allele num: 8588
num of homozygotes: 50

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 6.20347394540943e-3
allele num: 806
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-2

MQ
type: SiteQuality
SIO_000300: 5.845e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.338415e6

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

FS
type: SiteQuality
SIO_000300: 2.283e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
all individuals: 1148
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.785181164337088e-5
allele num: 58952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.970617431010522e-4
allele num: 10074
num of homozygotes: 0

East Asian
type: Population
allele count: 77
allele frequency: 9.997403271877434e-3
allele num: 7702
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.243781094527363e-3
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 1.332422e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.354e1

GenotypeQuality
all individuals: 1044
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.503642039542144e-5
allele num: 15376
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.305e1

DP
type: SiteQuality
SIO_000300: 1.295916e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

GenotypeQuality
all individuals: 4936
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728548710502662e-5
allele num: 57852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.343e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.291607e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

GenotypeQuality
all individuals: 738
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.613756613756613e-4
allele num: 7560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.507874528179097e-5
allele num: 15366
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e0

DP
type: SiteQuality
SIO_000300: 1.29166e6

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 3.724e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

QD
type: SiteQuality
SIO_000300: 1.561e1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4707
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.229752995326939e-4
allele num: 56922
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.78085061805992e-3
allele num: 9546
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.298701298701299e-3
allele num: 770
num of homozygotes: 0

African
type: Population
allele count: 199
allele frequency: 2.41504854368932e-2
allele num: 8240
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15264
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.267041e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.947e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.787e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.636e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

GenotypeQuality
all individuals: 410
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.238455822511588e-4
allele num: 56522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4988
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: 8178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15192
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 6.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.253987e6

GenotypeQuality
all individuals: 604
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.571938848406915e-5
allele num: 55992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7322
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.75e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

FS
type: SiteQuality
SIO_000300: 1.154e0

DP
type: SiteQuality
SIO_000300: 1.235144e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

GenotypeQuality
all individuals: 22503
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.960553660353684e-5
allele num: 51006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

DP
type: SiteQuality
SIO_000300: 1.096986e6

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.226e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 1287
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.198465963566635e-4
allele num: 8344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4258
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.107e1

DP
type: SiteQuality
SIO_000300: 1.096986e6

FS
type: SiteQuality
SIO_000300: 4.226e0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.023458350891979e-5
allele num: 14238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4258
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

FS
type: SiteQuality
SIO_000300: 4.226e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.096986e6

QD
type: SiteQuality
SIO_000300: 1.107e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1989
bin: 2.75e1
variant carriers: 8

South Asian
type: Population
allele count: 4
allele frequency: 2.807017543859649e-4
allele num: 14250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 9.435445824815223e-4
allele num: 50872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4260
num of homozygotes: 0

Latino
type: Population
allele count: 72
allele frequency: 8.655926905506131e-3
allele num: 8318
num of homozygotes: 0

African
type: Population
allele count: 947
allele frequency: 1.259978712080894e-1
allele num: 7516
num of homozygotes: 47

Other
type: Population
allele count: 5
allele frequency: 7.225433526011561e-3
allele num: 692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.07e-2

DP
type: SiteQuality
SIO_000300: 1.09233e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.838e1

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.965717880169838e-5
allele num: 50872
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: 6708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4260
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.40442414041837e-4
allele num: 8318
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.330494944119212e-4
allele num: 7516
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.403508771929824e-4
allele num: 14250
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
SIO_000300: 1.332e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

FS
type: SiteQuality
SIO_000300: 6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 1.09233e6

MQ
type: SiteQuality
SIO_000300: 5.838e1

GenotypeQuality
all individuals: 577
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.35072872590503e-4
allele num: 4254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.944409547738693e-4
allele num: 50944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

FS
type: SiteQuality
SIO_000300: 2.301e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

DP
type: SiteQuality
SIO_000300: 1.08074e6

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6684
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.035317292809905e-5
allele num: 14214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50772
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

FS
type: SiteQuality
SIO_000300: 1.0479e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.068499e6

GenotypeQuality
all individuals: 502
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.05896886839071e-5
allele num: 48568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.97e0

DP
type: SiteQuality
SIO_000300: 9.98792e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.965e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
all individuals: 904
bin: 5.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.373806732540613e-5
allele num: 47768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13632
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.932e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.05e-2

QD
type: SiteQuality
SIO_000300: 8.58e0

DP
type: SiteQuality
SIO_000300: 9.80787e5

GenotypeQuality
all individuals: 1018
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.33998825601879e-5
allele num: 13624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.194806829145518e-5
allele num: 47678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.311303435615001e-4
allele num: 7626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

FS
type: SiteQuality
SIO_000300: 1.381e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

DP
type: SiteQuality
SIO_000300: 9.75205e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

GenotypeQuality
all individuals: 1030
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3078
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

FS
type: SiteQuality
SIO_000300: 2.808e0

MQ
type: SiteQuality
SIO_000300: 5.289e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 7.27045e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 553
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 1.421608448415922e-3
allele num: 4924
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.159e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

DP
type: SiteQuality
SIO_000300: 6.67653e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1043
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.90015600624025e-4
allele num: 5128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36366
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.67653e5

VQSLOD
type: SiteQuality
SIO_000300: -1.159e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.195871761089152e-4
allele num: 4554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.918495297805642e-4
allele num: 5104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 6.06636e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

FS
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 9.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.164e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.603711285742587e-5
allele num: 30286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2106
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.69159e5

QD
type: SiteQuality
SIO_000300: 5.77e0

VQSLOD
type: SiteQuality
SIO_000300: -2.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.926108374384236e-4
allele num: 4060
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.518891687657431e-4
allele num: 3970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.277904328018223e-4
allele num: 4390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.3921302578019e-5
allele num: 29480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 7.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 5.5892e5

VQSLOD
type: SiteQuality
SIO_000300: -5.79e-1

GenotypeQuality
all individuals: 9
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 6.907583799898204e-4
allele num: 27506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3968
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.299417064122947e-4
allele num: 3774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

QD
type: SiteQuality
SIO_000300: 1.004e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 5.40527e5

FS
type: SiteQuality
SIO_000300: 2.454e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.97e-2

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.19019281123542e-4
allele num: 8402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.758833258156668e-5
allele num: 26604
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.652519893899204e-4
allele num: 3770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 7.82e0

DP
type: SiteQuality
SIO_000300: 5.25327e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 1967
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23648
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 6.337135614702154e-4
allele num: 3156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.8619e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

QD
type: SiteQuality
SIO_000300: 9.73e0

DP
type: SiteQuality
SIO_000300: 4.8619e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 82
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.679019277559424e-5
allele num: 21372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3012
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-2

QD
type: SiteQuality
SIO_000300: 1.157e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

VQSLOD
type: SiteQuality
SIO_000300: -1.046e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

DP
type: SiteQuality
SIO_000300: 4.61566e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.685e1

GenotypeQuality
all individuals: 407
bin: 3.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 3.045066991473812e-3
allele num: 1642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.381788033715628e-4
allele num: 14474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 137
allele frequency: 6.86372745490982e-2
allele num: 1996
num of homozygotes: 3

Other
type: Population
allele count: 2
allele frequency: 1.19047619047619e-2
allele num: 168
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.97993e5

QD
type: SiteQuality
SIO_000300: 1.004e1

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.582e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 3.391e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 5
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.239947264337508e-5
allele num: 12136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.937e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.85e-2

QD
type: SiteQuality
SIO_000300: 1.202e1

DP
type: SiteQuality
SIO_000300: 3.76448e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
all individuals: 131
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 6.830601092896175e-4
allele num: 1464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.91e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.83e0

DP
type: SiteQuality
SIO_000300: 3.75423e5

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.498351813005694e-4
allele num: 13348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1060
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.044e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.38e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.472e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 6.63884e5

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.275e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.70771e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.05e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 3.314e1

GenotypeQuality
all individuals: 722
bin: 9.25e1
variant carriers: 507

African
type: Population
allele count: 1404
allele frequency: 4.831383344803854e-1
allele num: 2906
num of homozygotes: 317

Latino
type: Population
allele count: 276
allele frequency: 2.222222222222222e-1
allele num: 1242
num of homozygotes: 18

European (Non-Finnish)
type: Population
allele count: 2445
allele frequency: 1.684812568908489e-1
allele num: 14512
num of homozygotes: 165

Other
type: Population
allele count: 48
allele frequency: 1.935483870967742e-1
allele num: 248
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 147
allele frequency: 2.543252595155709e-1
allele num: 578
num of homozygotes: 13

East Asian
type: Population
allele count: 351
allele frequency: 2.867647058823529e-1
allele num: 1224
num of homozygotes: 37

South Asian
type: Population
allele count: 1155
allele frequency: 1.384560057540158e-1
allele num: 8342
num of homozygotes: 83

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 7.10308e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.067e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.608e1

GenotypeQuality
all individuals: 542
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14630
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.43878954607978e-4
allele num: 2908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.363e0

FS
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 5.95843e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.83e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.663e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 4.57e0

GenotypeQuality
all individuals: 597
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.790419161676647e-4
allele num: 8350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.632179334129194e-5
allele num: 15078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1334
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

DP
type: SiteQuality
SIO_000300: 6.18477e5

FS
type: SiteQuality
SIO_000300: 1.355e0

QD
type: SiteQuality
SIO_000300: 1.447e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15152
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.97943075819182e-4
allele num: 8362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.24703e5

VQSLOD
type: SiteQuality
SIO_000300: -1.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.074e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 1.081e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.39e-2

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.24703e5

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 1.081e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.167e0

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.219958521410272e-4
allele num: 16394
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

QD
type: SiteQuality
SIO_000300: 1.336e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.62843e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeQuality
all individuals: 787
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 7.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 6.71788e5

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 1520
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.809225049378413e-5
allele num: 17214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.864e1

QD
type: SiteQuality
SIO_000300: 2.748e1

VQSLOD
type: SiteQuality
SIO_000300: -4.628e-1

FS
type: SiteQuality
SIO_000300: 9.013e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

DP
type: SiteQuality
SIO_000300: 6.79462e5

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.85767026134266e-5
allele num: 20586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.448e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

FS
type: SiteQuality
SIO_000300: 8.750999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.02e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.133e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 7.40429e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 382
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.259868973626743e-4
allele num: 23812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.412e0

DP
type: SiteQuality
SIO_000300: 7.86449e5

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.27e1

GenotypeQuality
all individuals: 1175
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.99872040946897e-5
allele num: 25008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.949e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.528e0

FS
type: SiteQuality
SIO_000300: 4.01e0

DP
type: SiteQuality
SIO_000300: 8.01791e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

QD
type: SiteQuality
SIO_000300: 7.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.952e-1

GenotypeQuality
all individuals: 387
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.079214331966328e-4
allele num: 9266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1364
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.491280518186348e-4
allele num: 4014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3304
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 1.932e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.431e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

QD
type: SiteQuality
SIO_000300: 9.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 8.14321e5

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.937720329024677e-4
allele num: 3404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.792188092529389e-5
allele num: 26370
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

DP
type: SiteQuality
SIO_000300: 8.21107e5

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.245e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 6.5e0

GenotypeQuality
all individuals: 1175
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.587057895114427e-5
allele num: 27878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3162
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.287e0

DP
type: SiteQuality
SIO_000300: 8.37071e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.573e0

QD
type: SiteQuality
SIO_000300: 7.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.523e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.158e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 396
bin: 4.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 1.071811361200429e-3
allele num: 3732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3238
num of homozygotes: 0

African
type: Population
allele count: 108
allele frequency: 2.471395881006865e-2
allele num: 4370
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 5.128205128205128e-3
allele num: 390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 1.745e0

DP
type: SiteQuality
SIO_000300: 8.44653e5

QD
type: SiteQuality
SIO_000300: 1.166e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

GenotypeQuality
all individuals: 1872
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.035411058190101e-4
allele num: 9658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.936e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.099e0

DP
type: SiteQuality
SIO_000300: 8.65364e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

QD
type: SiteQuality
SIO_000300: 9.43e0

VQSLOD
type: SiteQuality
SIO_000300: -2.224e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.92e-1

GenotypeQuality
all individuals: 476
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.633939233116624e-5
allele num: 30148
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.025e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 8.67692e5

QD
type: SiteQuality
SIO_000300: 7.69e0

GenotypeQuality
all individuals: 1876
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.86128459667346e-5
allele num: 30422
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.166377816291161e-4
allele num: 4616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.031991744066047e-4
allele num: 9690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.347e-1

DP
type: SiteQuality
SIO_000300: 8.7356e5

FS
type: SiteQuality
SIO_000300: 1.0038e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

QD
type: SiteQuality
SIO_000300: 6.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

GenotypeQuality
all individuals: 727
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31372
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 1.152073732718894e-3
allele num: 4340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.449e0

DP
type: SiteQuality
SIO_000300: 8.82964e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.083e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

QD
type: SiteQuality
SIO_000300: 1.476e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

GenotypeQuality
all individuals: 15696
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.165959602355474e-5
allele num: 31586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.259e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 8.85696e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
all individuals: 315
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31762
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.092925910422771e-4
allele num: 4778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.623e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.449e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 8.88699e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.89e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 1165
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.015022330491271e-4
allele num: 9852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3816
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

QD
type: SiteQuality
SIO_000300: 1.552e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

FS
type: SiteQuality
SIO_000300: 1.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.617e0

DP
type: SiteQuality
SIO_000300: 8.90146e5

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 546
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.587991718426501e-4
allele num: 3864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 8.87154e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

GenotypeQuality
all individuals: 1859
bin: 6.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.470459518599562e-4
allele num: 1828
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 6.63716814159292e-4
allele num: 4520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 75
allele frequency: 2.339509638779712e-3
allele num: 32058
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 2.842639593908629e-3
allele num: 9850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 8.87047e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 1.212e1

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3874
num of homozygotes: 0