http://identifiers.org/exac.variant/2-165578696-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578696
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578696
    reference: chr 2
allele count: 4
allele frequency: 3.297446127973885e-5
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.885T>G
  hgvsp: ENST00000375458.2:c.885T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.999T>G
  hgvsp: ENST00000409184.3:c.999T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.999T>G
  hgvsp: ENST00000392717.2:c.999T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17081T>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1083T>G
  hgvsp: ENST00000194871.6:c.1083T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.193T>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.885T>G
  hgvsp: ENST00000342193.4:c.885T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.924T>G
  hgvsp: ENST00000456171.1:c.924T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17081T>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2709T>G
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala295Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-165578698-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578698
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578698
    reference: chr 2
allele count: 4
allele frequency: 3.297228679295053e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.922G>T
  hgvsp: ENSP00000416311.1:p.Ala308Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.883G>T
  hgvsp: ENSP00000341360.4:p.Ala295Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.191G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.883G>T
  hgvsp: ENSP00000364607.2:p.Ala295Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.997G>T
  hgvsp: ENSP00000387326.3:p.Ala333Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2707G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17083G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17083G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.997G>T
  hgvsp: ENSP00000376478.2:p.Ala333Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1081G>T
  hgvsp: ENSP00000194871.6:p.Ala361Ser
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala295Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP

2-165578700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578700
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578700
    reference: chr 2
allele count: 4
allele frequency: 3.297391763115376e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.920G>A
  hgvsp: ENSP00000416311.1:p.Arg307Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.881G>A
  hgvsp: ENSP00000364607.2:p.Arg294Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1079G>A
  hgvsp: ENSP00000194871.6:p.Arg360Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.189G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17085G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.995G>A
  hgvsp: ENSP00000376478.2:p.Arg332Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17085G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.881G>A
  hgvsp: ENSP00000341360.4:p.Arg294Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.995G>A
  hgvsp: ENSP00000387326.3:p.Arg332Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2705G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg294Gln
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-165578701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578701
    reference: chr 2
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.880C>T
  hgvsp: ENSP00000364607.2:p.Arg294Trp
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17086C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.994C>T
  hgvsp: ENSP00000387326.3:p.Arg332Trp
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1078C>T
  hgvsp: ENSP00000194871.6:p.Arg360Trp
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17086C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.994C>T
  hgvsp: ENSP00000376478.2:p.Arg332Trp
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2704C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.880C>T
  hgvsp: ENSP00000341360.4:p.Arg294Trp
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.919C>T
  hgvsp: ENSP00000416311.1:p.Arg307Trp
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.188C>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg294Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-165578708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578708
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578708
    reference: chr 2
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.181G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.912G>A
  hgvsp: ENST00000456171.1:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17093G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.873G>A
  hgvsp: ENST00000375458.2:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17093G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.987G>A
  hgvsp: ENST00000392717.2:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.873G>A
  hgvsp: ENST00000342193.4:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.987G>A
  hgvsp: ENST00000409184.3:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1071G>A
  hgvsp: ENST00000194871.6:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2697G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13386
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys291Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-165578716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578716
    reference: chr 2
allele count: 3
allele frequency: 2.472106399459433e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17101G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.979G>A
  hgvsp: ENSP00000387326.3:p.Ala327Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.865G>A
  hgvsp: ENSP00000341360.4:p.Ala289Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1063G>A
  hgvsp: ENSP00000194871.6:p.Ala355Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.865G>A
  hgvsp: ENSP00000364607.2:p.Ala289Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2689G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17101G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.173G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.979G>A
  hgvsp: ENSP00000376478.2:p.Ala327Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.904G>A
  hgvsp: ENSP00000416311.1:p.Ala302Thr
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13383
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala289Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-165578720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578720
    reference: chr 2
allele count: 4
allele frequency: 3.296467834715103e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17105G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.975G>A
  hgvsp: ENST00000409184.3:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2685G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.900G>A
  hgvsp: ENST00000456171.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17105G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.861G>A
  hgvsp: ENST00000375458.2:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.861G>A
  hgvsp: ENST00000342193.4:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.169G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1059G>A
  hgvsp: ENST00000194871.6:c.1059G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.975G>A
  hgvsp: ENST00000392717.2:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser287Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-165578721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578721
    reference: chr 2
allele count: 4
allele frequency: 3.296250515039143e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17106C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.860C>T
  hgvsp: ENSP00000341360.4:p.Ser287Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17106C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.860C>T
  hgvsp: ENSP00000364607.2:p.Ser287Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.974C>T
  hgvsp: ENSP00000387326.3:p.Ser325Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.974C>T
  hgvsp: ENSP00000376478.2:p.Ser325Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2684C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.899C>T
  hgvsp: ENSP00000416311.1:p.Ser300Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.168C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1058C>T
  hgvsp: ENSP00000194871.6:p.Ser353Leu
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser287Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-165578723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578723
    reference: chr 2
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.166G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.858G>A
  hgvsp: ENST00000342193.4:c.858G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.858G>A
  hgvsp: ENST00000375458.2:c.858G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.972G>A
  hgvsp: ENST00000409184.3:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1056G>A
  hgvsp: ENST00000194871.6:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.897G>A
  hgvsp: ENST00000456171.1:c.897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2682G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17108G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.972G>A
  hgvsp: ENST00000392717.2:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17108G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13380
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro286Pro
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-165578724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578724
    reference: chr 2
allele count: 5
allele frequency: 4.120381052839767e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.971C>T
  hgvsp: ENSP00000376478.2:p.Pro324Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.971C>T
  hgvsp: ENSP00000387326.3:p.Pro324Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2681C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1055C>T
  hgvsp: ENSP00000194871.6:p.Pro352Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.165C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.857C>T
  hgvsp: ENSP00000364607.2:p.Pro286Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.896C>T
  hgvsp: ENSP00000416311.1:p.Pro299Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.857C>T
  hgvsp: ENSP00000341360.4:p.Pro286Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17109C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17109C>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro286Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-165578729-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578729
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578729
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.966C>A
  hgvsp: ENST00000392717.2:c.966C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.852C>A
  hgvsp: ENST00000342193.4:c.852C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2676C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.160C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1050C>A
  hgvsp: ENST00000194871.6:c.1050C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.891C>A
  hgvsp: ENST00000456171.1:c.891C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17114C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.966C>A
  hgvsp: ENST00000409184.3:c.966C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.852C>A
  hgvsp: ENST00000375458.2:c.852C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17114C>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr284Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-165578732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578732
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578732
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.849C>T
  hgvsp: ENST00000375458.2:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.849C>T
  hgvsp: ENST00000342193.4:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1047C>T
  hgvsp: ENST00000194871.6:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2673C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.963C>T
  hgvsp: ENST00000392717.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.963C>T
  hgvsp: ENST00000409184.3:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17117C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.888C>T
  hgvsp: ENST00000456171.1:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17117C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.157C>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn283Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-165578742-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578742
    reference: chr 2
allele count: 5
allele frequency: 4.120856478810556e-5
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.953A>G
  hgvsp: ENSP00000376478.2:p.Tyr318Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1037A>G
  hgvsp: ENSP00000194871.6:p.Tyr346Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.147A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2663A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.839A>G
  hgvsp: ENSP00000364607.2:p.Tyr280Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.878A>G
  hgvsp: ENSP00000416311.1:p.Tyr293Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17127A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.953A>G
  hgvsp: ENSP00000387326.3:p.Tyr318Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.839A>G
  hgvsp: ENSP00000341360.4:p.Tyr280Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17127A>G
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr280Cys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-165578756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578756
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578756
    reference: chr 2
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.133C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17141C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.825C>T
  hgvsp: ENST00000342193.4:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.825C>T
  hgvsp: ENST00000375458.2:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.939C>T
  hgvsp: ENST00000392717.2:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.864C>T
  hgvsp: ENST00000456171.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.939C>T
  hgvsp: ENST00000409184.3:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2649C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1023C>T
  hgvsp: ENST00000194871.6:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17141C>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr275Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-165578772-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578772
    reference: chr 2
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.809T>C
  hgvsp: ENSP00000341360.4:p.Phe270Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.809T>C
  hgvsp: ENSP00000364607.2:p.Phe270Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.923T>C
  hgvsp: ENSP00000376478.2:p.Phe308Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17157T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.848T>C
  hgvsp: ENSP00000416311.1:p.Phe283Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17157T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.1007T>C
  hgvsp: ENSP00000194871.6:p.Phe336Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2633T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.923T>C
  hgvsp: ENSP00000387326.3:p.Phe308Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.117T>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe270Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

2-165578781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578781
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578781
    reference: chr 2
allele count: 8
allele frequency: 6.595870984763538e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.839G>A
  hgvsp: ENSP00000416311.1:p.Arg280His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.800G>A
  hgvsp: ENSP00000364607.2:p.Arg267His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.800G>A
  hgvsp: ENSP00000341360.4:p.Arg267His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.914G>A
  hgvsp: ENSP00000387326.3:p.Arg305His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.998G>A
  hgvsp: ENSP00000194871.6:p.Arg333His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.914G>A
  hgvsp: ENSP00000376478.2:p.Arg305His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.108G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17166G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2624G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17166G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg267His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-165578782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578782
    reference: chr 2
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.107C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.997C>T
  hgvsp: ENSP00000194871.6:p.Arg333Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.913C>T
  hgvsp: ENSP00000376478.2:p.Arg305Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2623C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.799C>T
  hgvsp: ENSP00000364607.2:p.Arg267Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.913C>T
  hgvsp: ENSP00000387326.3:p.Arg305Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.838C>T
  hgvsp: ENSP00000416311.1:p.Arg280Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17167C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.799C>T
  hgvsp: ENSP00000341360.4:p.Arg267Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17167C>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg267Cys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-165578794-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578794
    reference: chr 2
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.787G>C
  hgvsp: ENSP00000341360.4:p.Val263Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.901G>C
  hgvsp: ENSP00000376478.2:p.Val301Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2611G>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.826G>C
  hgvsp: ENSP00000416311.1:p.Val276Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17179G>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.985G>C
  hgvsp: ENSP00000194871.6:p.Val329Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.901G>C
  hgvsp: ENSP00000387326.3:p.Val301Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.787G>C
  hgvsp: ENSP00000364607.2:p.Val263Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.95G>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17179G>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val263Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

2-165578794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578794
    reference: chr 2
allele count: 40
allele frequency: 3.300057751010642e-4
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.787G>A
  hgvsp: ENSP00000364607.2:p.Val263Ile
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.95G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.901G>A
  hgvsp: ENSP00000387326.3:p.Val301Ile
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.826G>A
  hgvsp: ENSP00000416311.1:p.Val276Ile
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.901G>A
  hgvsp: ENSP00000376478.2:p.Val301Ile
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17179G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2611G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.787G>A
  hgvsp: ENSP00000341360.4:p.Val263Ile
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17179G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.985G>A
  hgvsp: ENSP00000194871.6:p.Val329Ile
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13442
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val263Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

2-165578799-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578799
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578799
    reference: chr 2
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.90C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.821C>A
  hgvsp: ENSP00000416311.1:p.Pro274His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2606C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17184C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.896C>A
  hgvsp: ENSP00000376478.2:p.Pro299His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.782C>A
  hgvsp: ENSP00000341360.4:p.Pro261His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17184C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.782C>A
  hgvsp: ENSP00000364607.2:p.Pro261His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.980C>A
  hgvsp: ENSP00000194871.6:p.Pro327His
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.896C>A
  hgvsp: ENSP00000387326.3:p.Pro299His
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro261His
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-165578802-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578802
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578802
    reference: chr 2
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17187C>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.893C>G
  hgvsp: ENSP00000376478.2:p.Thr298Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.818C>G
  hgvsp: ENSP00000416311.1:p.Thr273Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.779C>G
  hgvsp: ENSP00000364607.2:p.Thr260Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.977C>G
  hgvsp: ENSP00000194871.6:p.Thr326Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17187C>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.779C>G
  hgvsp: ENSP00000341360.4:p.Thr260Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.893C>G
  hgvsp: ENSP00000387326.3:p.Thr298Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.87C>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2603C>G
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr260Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-165578809-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578809
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578809
    reference: chr 2
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.772C>T
  hgvsp: ENSP00000364607.2:p.Pro258Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17194C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.886C>T
  hgvsp: ENSP00000387326.3:p.Pro296Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.970C>T
  hgvsp: ENSP00000194871.6:p.Pro324Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.772C>T
  hgvsp: ENSP00000341360.4:p.Pro258Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2596C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.80C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.886C>T
  hgvsp: ENSP00000376478.2:p.Pro296Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.811C>T
  hgvsp: ENSP00000416311.1:p.Pro271Ser
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17194C>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro258Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-165578814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578814
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578814
    reference: chr 2
allele count: 2
allele frequency: 1.654232353476369e-5
allele num: 120902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.806G>A
  hgvsp: ENSP00000416311.1:p.Ser269Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.965G>A
  hgvsp: ENSP00000194871.6:p.Ser322Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.881G>A
  hgvsp: ENSP00000387326.3:p.Ser294Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.881G>A
  hgvsp: ENSP00000376478.2:p.Ser294Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.767G>A
  hgvsp: ENSP00000341360.4:p.Ser256Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17199G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2591G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.75G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.767G>A
  hgvsp: ENSP00000364607.2:p.Ser256Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17199G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17971
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser256Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-165578827-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578827
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578827
    reference: chr 2
allele count: 350
allele frequency: 2.910360884749709e-3
allele num: 120260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.760-6T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.760-6T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2584-6T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.874-6T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.958-6T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17212T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.874-6T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.799-6T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.767-6T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.68-6T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17212T>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17141
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 4.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
hgvs: c.760-6T>C
num of homozygotes: 1
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-165578833-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578833
    reference: chr 2
allele count: 1
allele frequency: 8.32251406504877e-6
allele num: 120156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2584-12A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.958-12A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17218A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.760-12A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.799-12A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.68-12A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.767-12A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17218A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.760-12A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.874-12A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.874-12A>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-165578842-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578842
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578843
    reference: chr 2
allele count: 2
allele frequency: 1.670955452327641e-5
allele num: 119692
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.799-22dupT
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.874-22dupT
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.760-22dupT
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17228dupT
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2584-22dupT
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.767-22dupT
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.760-22dupT
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.68-22dupT
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17228dupT
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.958-22dupT
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.874-22dupT
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

2-165578848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578848
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578848
    reference: chr 2
allele count: 1
allele frequency: 8.375630266177531e-6
allele num: 119394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.874-27G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17233G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.760-27G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2584-27G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.760-27G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.958-27G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17233G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.799-27G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.874-27G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.68-27G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.767-27G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13987
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

2-165578863-TATTAGTAAAAAGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578850
    reference: chr 2
allele count: 4
allele frequency: 3.378834977699689e-5
allele num: 118384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: TATTAGTAAAAAGC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

2-165578865-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578865
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578865
    reference: chr 2
allele count: 3
allele frequency: 2.539016215850232e-5
allele num: 118156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2584-44A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.760-44A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.767-44A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.760-44A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.799-44A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17250A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.68-44A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17250A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.874-44A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.874-44A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.958-44A>G
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-165578868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578868
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578868
    reference: chr 2
allele count: 2
allele frequency: 1.697533483847969e-5
allele num: 117818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17253C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.874-47C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2584-47C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.874-47C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.760-47C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17253C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.799-47C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.958-47C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.68-47C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.760-47C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.767-47C>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

2-165578868-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578868
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578868
    reference: chr 2
allele count: 1
allele frequency: 8.487667419239845e-6
allele num: 117818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.874-47C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.958-47C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17253C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.760-47C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.760-47C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2584-47C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17253C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.799-47C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.767-47C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.874-47C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.68-47C>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-165578886-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578886
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578886
    reference: chr 2
allele count: 1
allele frequency: 8.986825314089544e-6
allele num: 111274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17271A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.67+49A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.759+49A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2583+49A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17271A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.798+49A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.759+49A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.873+49A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.957+49A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.873+49A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.766+49A>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

2-165578891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578891
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578891
    reference: chr 2
allele count: 1
allele frequency: 9.017620430320846e-6
allele num: 110894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.67+44T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.759+44T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.957+44T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.766+44T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.798+44T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17276T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17276T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.873+44T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2583+44T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.873+44T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.759+44T>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-165578900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578900
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578900
    reference: chr 2
allele count: 39
allele frequency: 3.536901674133459e-4
allele num: 110266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17285C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.67+35C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.798+35C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.759+35C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.759+35C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.957+35C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17285C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.766+35C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.873+35C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2583+35C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.873+35C>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18429
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-165578917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578917
    reference: chr 2
allele count: 1
allele frequency: 9.077210754679303e-6
allele num: 110166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.67+18T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.759+18T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.766+18T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17302T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.873+18T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.798+18T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.759+18T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.957+18T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17302T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.873+18T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2583+18T>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 2.25e1
  variant carriers: 0
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: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-165578918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578918
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578918
    reference: chr 2
allele count: 1
allele frequency: 9.074080795615405e-6
allele num: 110204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17303A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.957+17A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2583+17A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.766+17A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.798+17A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.873+17A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.873+17A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.67+17A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17303A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.759+17A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.759+17A>G
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

2-165578921-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578921
    reference: chr 2
allele count: 1
allele frequency: 9.066676337788093e-6
allele num: 110294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.873+14T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.759+14T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.957+14T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17306T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.766+14T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.759+14T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.798+14T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.67+14T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2583+14T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.873+14T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17306T>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-165578930-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578930
    reference: chr 2
allele count: 2
allele frequency: 1.812809310588619e-5
allele num: 110326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.766+5G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.873+5G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.759+5G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.873+5G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2583+5G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.798+5G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.67+5G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17315G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.957+5G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17315G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.759+5G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.759+5G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-165578932-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578932
    reference: chr 2
allele count: 1
allele frequency: 9.05682250439256e-6
allele num: 110414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.766+3A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.759+3A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17317A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.798+3A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.67+3A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.759+3A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.957+3A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.873+3A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17317A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.873+3A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2583+3A>G
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.759+3A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-165578940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578940
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578940
    reference: chr 2
allele count: 1
allele frequency: 9.059119815918686e-6
allele num: 110386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.761G>A
  hgvsp: ENSP00000400146.1:p.Asp255Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.868G>A
  hgvsp: ENSP00000387326.3:p.Asp290Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.754G>A
  hgvsp: ENSP00000341360.4:p.Asp252Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.868G>A
  hgvsp: ENSP00000376478.2:p.Asp290Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17325G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2578G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17325G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.754G>A
  hgvsp: ENSP00000364607.2:p.Asp252Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.793G>A
  hgvsp: ENSP00000416311.1:p.Asp265Asn
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.62G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.952G>A
  hgvsp: ENSP00000194871.6:p.Asp318Asn
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp252Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-165578942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578942
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578942
    reference: chr 2
allele count: 8
allele frequency: 7.244539428405839e-5
allele num: 110428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.866G>A
  hgvsp: ENSP00000376478.2:p.Arg289Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.866G>A
  hgvsp: ENSP00000387326.3:p.Arg289Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2576G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.752G>A
  hgvsp: ENSP00000364607.2:p.Arg251Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17327G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.752G>A
  hgvsp: ENSP00000341360.4:p.Arg251Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.759G>A
  hgvsp: ENSP00000400146.1:p.Arg254Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.950G>A
  hgvsp: ENSP00000194871.6:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.60G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.791G>A
  hgvsp: ENSP00000416311.1:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17327G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19436
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg251Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

2-165578958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578958
    reference: chr 2
allele count: 9
allele frequency: 8.154980881100378e-5
allele num: 110362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17343C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.775C>T
  hgvsp: ENSP00000416311.1:p.Arg259Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17343C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.736C>T
  hgvsp: ENSP00000364607.2:p.Arg246Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.934C>T
  hgvsp: ENSP00000194871.6:p.Arg312Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.850C>T
  hgvsp: ENSP00000387326.3:p.Arg284Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.743C>T
  hgvsp: ENSP00000400146.1:p.Arg249Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2560C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.736C>T
  hgvsp: ENSP00000341360.4:p.Arg246Cys
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.44C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.850C>T
  hgvsp: ENSP00000376478.2:p.Arg284Cys
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8073
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg246Cys
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-165578959-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578959
    reference: chr 2
allele count: 4
allele frequency: 3.623057135611029e-5
allele num: 110404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.735A>G
  hgvsp: ENST00000375458.2:c.735A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.849A>G
  hgvsp: ENST00000409184.3:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17344A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.43A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2559A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.735A>G
  hgvsp: ENST00000342193.4:c.735A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.933A>G
  hgvsp: ENST00000194871.6:c.933A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.774A>G
  hgvsp: ENST00000456171.1:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.849A>G
  hgvsp: ENST00000392717.2:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17344A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.742A>G
  hgvsp: ENST00000452626.1:c.742A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln245Gln
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: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-165578976-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578976
    reference: chr 2
allele count: 1
allele frequency: 9.086118228570391e-6
allele num: 110058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17361T>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.718T>G
  hgvsp: ENSP00000364607.2:p.Phe240Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.725T>G
  hgvsp: ENSP00000400146.1:p.Phe243Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17361T>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.916T>G
  hgvsp: ENSP00000194871.6:p.Phe306Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2542T>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.832T>G
  hgvsp: ENSP00000376478.2:p.Phe278Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.26T>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.757T>G
  hgvsp: ENSP00000416311.1:p.Phe253Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.832T>G
  hgvsp: ENSP00000387326.3:p.Phe278Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.718T>G
  hgvsp: ENSP00000341360.4:p.Phe240Val
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe240Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-165578976-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578976
    reference: chr 2
allele count: 1
allele frequency: 9.086118228570391e-6
allele num: 110058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.757T>C
  hgvsp: ENSP00000416311.1:p.Phe253Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17361T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.26T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.832T>C
  hgvsp: ENSP00000376478.2:p.Phe278Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.916T>C
  hgvsp: ENSP00000194871.6:p.Phe306Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.718T>C
  hgvsp: ENSP00000341360.4:p.Phe240Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.725T>C
  hgvsp: ENSP00000400146.1:p.Phe243Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2542T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.718T>C
  hgvsp: ENSP00000364607.2:p.Phe240Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.832T>C
  hgvsp: ENSP00000387326.3:p.Phe278Leu
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17361T>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19497
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe240Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-165578978-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578978
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578978
    reference: chr 2
allele count: 1
allele frequency: 9.090247981964949e-6
allele num: 110008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.914G>T
  hgvsp: ENSP00000194871.6:p.Gly305Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.716G>T
  hgvsp: ENSP00000341360.4:p.Gly239Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.755G>T
  hgvsp: ENSP00000416311.1:p.Gly252Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17363G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.830G>T
  hgvsp: ENSP00000387326.3:p.Gly277Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.716G>T
  hgvsp: ENSP00000364607.2:p.Gly239Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.24G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.723G>T
  hgvsp: ENSP00000400146.1:p.Gly242Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.830G>T
  hgvsp: ENSP00000376478.2:p.Gly277Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2540G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17363G>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly239Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-165578981-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578981
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578981
    reference: chr 2
allele count: 1
allele frequency: 9.096201426284383e-6
allele num: 109936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.713A>G
  hgvsp: ENSP00000364607.2:p.Lys238Arg
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17366A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.911A>G
  hgvsp: ENSP00000194871.6:p.Lys304Arg
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17366A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.827A>G
  hgvsp: ENSP00000376478.2:p.Lys276Arg
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.752A>G
  hgvsp: ENSP00000416311.1:p.Lys251Arg
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.713A>G
  hgvsp: ENSP00000341360.4:p.Lys238Arg
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2537A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.827A>G
  hgvsp: ENSP00000387326.3:p.Lys276Arg
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.720A>G
  hgvsp: ENSP00000400146.1:p.Lys241Arg
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.21A>G
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys238Arg
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: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

2-165578983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165578983
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165578983
    reference: chr 2
allele count: 1
allele frequency: 9.097194425239256e-6
allele num: 109924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.825T>C
  hgvsp: ENST00000392717.2:c.825T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17368T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.909T>C
  hgvsp: ENST00000194871.6:c.909T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.711T>C
  hgvsp: ENST00000375458.2:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.750T>C
  hgvsp: ENST00000456171.1:c.750T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.825T>C
  hgvsp: ENST00000409184.3:c.825T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2535T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000474975
  gene symbol: COBLL1
  hgvsc: ENST00000474975.1:n.19T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.711T>C
  hgvsp: ENST00000342193.4:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.718T>C
  hgvsp: ENST00000452626.1:c.718T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17368T>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn237Asn
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-165579002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579002
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579002
    reference: chr 2
allele count: 4
allele frequency: 3.655906116330933e-5
allele num: 109412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.731T>C
  hgvsp: ENSP00000416311.1:p.Ile244Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2516T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.699T>C
  hgvsp: ENSP00000400146.1:p.Ile234Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.656T>C
  hgvsp: ENST00000456693.1:c.656T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.890T>C
  hgvsp: ENSP00000194871.6:p.Ile297Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.806T>C
  hgvsp: ENSP00000387326.3:p.Ile269Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17387T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.692T>C
  hgvsp: ENSP00000364607.2:p.Ile231Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17387T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.806T>C
  hgvsp: ENSP00000376478.2:p.Ile269Thr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.692T>C
  hgvsp: ENSP00000341360.4:p.Ile231Thr
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile231Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-165579004-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579004
    reference: chr 2
allele count: 3
allele frequency: 2.74333369911116e-5
allele num: 109356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.888T>C
  hgvsp: ENST00000194871.6:c.888T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.729T>C
  hgvsp: ENST00000456171.1:c.729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.804T>C
  hgvsp: ENST00000392717.2:c.804T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2514T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17389T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.654T>C
  hgvsp: ENST00000456693.1:c.654T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.804T>C
  hgvsp: ENST00000409184.3:c.804T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.697T>C
  hgvsp: ENST00000452626.1:c.697T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17389T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.690T>C
  hgvsp: ENST00000342193.4:c.690T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.690T>C
  hgvsp: ENST00000375458.2:c.690T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp230Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

2-165579016-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579016
    reference: chr 2
allele count: 3
allele frequency: 2.75583318023149e-5
allele num: 108860
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.678A>G
  hgvsp: ENST00000342193.4:c.678A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.642A>G
  hgvsp: ENST00000456693.1:c.642A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.876A>G
  hgvsp: ENST00000194871.6:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.792A>G
  hgvsp: ENST00000409184.3:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.717A>G
  hgvsp: ENST00000456171.1:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.685A>G
  hgvsp: ENST00000452626.1:c.685A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.678A>G
  hgvsp: ENST00000375458.2:c.678A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.792A>G
  hgvsp: ENST00000392717.2:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17401A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2502A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17401A>G
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser226Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-165579016-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579016
    reference: chr 2
allele count: 1
allele frequency: 9.186110600771634e-6
allele num: 108860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.678A>T
  hgvsp: ENST00000375458.2:c.678A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.792A>T
  hgvsp: ENST00000392717.2:c.792A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.792A>T
  hgvsp: ENST00000409184.3:c.792A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.876A>T
  hgvsp: ENST00000194871.6:c.876A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.642A>T
  hgvsp: ENST00000456693.1:c.642A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.678A>T
  hgvsp: ENST00000342193.4:c.678A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17401A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.717A>T
  hgvsp: ENST00000456171.1:c.717A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.685A>T
  hgvsp: ENST00000452626.1:c.685A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2502A>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17401A>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser226Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-165579021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579021
    reference: chr 2
allele count: 1
allele frequency: 9.208951100469656e-6
allele num: 108590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.680A>G
  hgvsp: ENSP00000400146.1:p.Ile228Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17406A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17406A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.871A>G
  hgvsp: ENSP00000194871.6:p.Ile291Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.637A>G
  hgvsp: ENSP00000397520.1:p.Ile213Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.673A>G
  hgvsp: ENSP00000341360.4:p.Ile225Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2497A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.673A>G
  hgvsp: ENSP00000364607.2:p.Ile225Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.712A>G
  hgvsp: ENSP00000416311.1:p.Ile238Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.787A>G
  hgvsp: ENSP00000387326.3:p.Ile263Val
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.787A>G
  hgvsp: ENSP00000376478.2:p.Ile263Val
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile225Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-165579026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579026
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579026
    reference: chr 2
allele count: 1
allele frequency: 9.236339453947611e-6
allele num: 108268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.782G>A
  hgvsp: ENSP00000376478.2:p.Cys261Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.668G>A
  hgvsp: ENSP00000341360.4:p.Cys223Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.866G>A
  hgvsp: ENSP00000194871.6:p.Cys289Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.632G>A
  hgvsp: ENSP00000397520.1:p.Cys211Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.707G>A
  hgvsp: ENSP00000416311.1:p.Cys236Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.675G>A
  hgvsp: ENSP00000400146.1:p.Cys226Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.668G>A
  hgvsp: ENSP00000364607.2:p.Cys223Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17411G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2492G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.782G>A
  hgvsp: ENSP00000387326.3:p.Cys261Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17411G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys223Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

2-165579029-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579029
    reference: chr 2
allele count: 1
allele frequency: 9.254289363119806e-6
allele num: 108058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.779C>A
  hgvsp: ENSP00000387326.3:p.Ser260Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.665C>A
  hgvsp: ENSP00000341360.4:p.Ser222Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17414C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.704C>A
  hgvsp: ENSP00000416311.1:p.Ser235Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.665C>A
  hgvsp: ENSP00000364607.2:p.Ser222Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.672C>A
  hgvsp: ENSP00000400146.1:p.Ser225Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.779C>A
  hgvsp: ENSP00000376478.2:p.Ser260Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17414C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.629C>A
  hgvsp: ENSP00000397520.1:p.Ser210Tyr
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2489C>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.863C>A
  hgvsp: ENSP00000194871.6:p.Ser288Tyr
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser222Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

2-165579031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579031
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579031
    reference: chr 2
allele count: 1
allele frequency: 9.270246217739544e-6
allele num: 107872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.777G>A
  hgvsp: ENST00000409184.3:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.670G>A
  hgvsp: ENST00000452626.1:c.670G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.702G>A
  hgvsp: ENST00000456171.1:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.777G>A
  hgvsp: ENST00000392717.2:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2487G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.627G>A
  hgvsp: ENST00000456693.1:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.663G>A
  hgvsp: ENST00000342193.4:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17416G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17416G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.861G>A
  hgvsp: ENST00000194871.6:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.663G>A
  hgvsp: ENST00000375458.2:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.663G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum

2-165579050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579050
    reference: chr 2
allele count: 2
allele frequency: 1.881042850156126e-5
allele num: 106324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.669-18G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.626-18G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.662-18G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.776-18G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.662-18G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17435G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.860-18G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2468G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17435G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.776-18G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.701-18G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12344
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD

2-165579055-TACTTTTGTATGTGAGGTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579036
    reference: chr 2
allele count: 2
allele frequency: 1.888110567754848e-5
allele num: 105926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  variant of: http://identifiers.org/hgnc/23571
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15475
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: TACTTTTGTATGTGAGGTTG
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-165579065-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579065
    reference: chr 2
allele count: 1
allele frequency: 9.536888685435264e-6
allele num: 104856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.776-33A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2453A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.626-33A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.860-33A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.662-33A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17450A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.669-33A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.701-33A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.776-33A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17450A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.662-33A>G
  variant of: http://identifiers.org/hgnc/23571
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

2-165579065-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579065
    reference: chr 2
allele count: 15908
allele frequency: 1.517128252079042e-1
allele num: 104856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.669-33A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17450A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.662-33A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.662-33A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17450A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.626-33A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2453A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.776-33A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.776-33A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.701-33A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.860-33A>C
  variant of: http://identifiers.org/hgnc/23571
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 2.25e1
  variant carriers: 2380
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 9.75e1
  variant carriers: 375
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 7.5e0
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 244
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 1.75e1
  variant carriers: 1570
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 1.25e1
  variant carriers: 666
genotype depth: GenotypeDepth
  all individuals: 12544
  bin: 2.75e1
  variant carriers: 2483
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 731
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.75e1
  variant carriers: 1557
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 450
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 2.5e0
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 3.25e1
  variant carriers: 2063
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 324
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.25e1
  variant carriers: 1060
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.75e1
  variant carriers: 63
num of homozygotes: 1360
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

2-165579074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165579074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165579074
    reference: chr 2
allele count: 2
allele frequency: 1.934535324615028e-5
allele num: 103384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.662-42C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.860-42C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.626-42C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-17459C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.776-42C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000493868
  gene symbol: COBLL1
  hgvsc: ENST00000493868.1:n.2444C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.701-42C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.366-17459C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.776-42C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.669-42C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.662-42C>T
  variant of: http://identifiers.org/hgnc/23571
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-165583584-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165583584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165583584
    reference: chr 2
allele count: 1
allele frequency: 6.333122229259025e-5
allele num: 15790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.625+32T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-21969T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.661+895T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.775+895T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.700+32T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.365+16613T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.668+895T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.775+895T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.661+895T>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.859+32T>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-165583585-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165583585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165583585
    reference: chr 2
allele count: 8
allele frequency: 5.050505050505051e-4
allele num: 15840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.859+31A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.625+31A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.661+894A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.661+894A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.668+894A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.775+894A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-21970A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.700+31A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.775+894A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.365+16612A>G
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-165583608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165583608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165583608
    reference: chr 2
allele count: 1
allele frequency: 6.045218232378189e-5
allele num: 16542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-21993G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.859+8G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.775+871G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.700+8G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.668+871G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.775+871G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.661+871G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.625+8G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.365+16589G>A
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.661+871G>A
  variant of: http://identifiers.org/hgnc/23571
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
hgvs: c.859+8G>A
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-165583658-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165583658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165583658
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 16776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.775+821G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.821-4G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.587-4G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.668+821G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.775+821G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.661+821G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.661+821G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.365+16539G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.662-4G>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-22043G>T
  variant of: http://identifiers.org/hgnc/23571
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
hgvs: c.821-4G>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-165583670-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165583670
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165583670
    reference: chr 2
allele count: 15
allele frequency: 8.977735216662676e-4
allele num: 16708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.775+809A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.775+809A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.587-16A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.661+809A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.365+16527A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-22055A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.821-16A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.662-16A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.661+809A>C
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.668+809A>C
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-165583679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165583679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165583679
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 16662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.775+800C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.668+800C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.661+800C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.775+800C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.365+16518C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.661+800C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.587-25C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.821-25C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-22064C>T
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.662-25C>T
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

2-165583686-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165583686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 165583686
    reference: chr 2
allele count: 1
allele frequency: 6.032818532818533e-5
allele num: 16576
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000341360
  ensembl transcript: ENST00000342193
  gene symbol: COBLL1
  hgvsc: ENST00000342193.4:c.661+793A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000397520
  ensembl transcript: ENST00000456693
  gene symbol: COBLL1
  hgvsc: ENST00000456693.1:c.587-32A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000416311
  ensembl transcript: ENST00000456171
  gene symbol: COBLL1
  hgvsc: ENST00000456171.1:c.662-32A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000194871
  ensembl transcript: ENST00000194871
  gene symbol: COBLL1
  hgvsc: ENST00000194871.6:c.821-32A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000387326
  ensembl transcript: ENST00000409184
  gene symbol: COBLL1
  hgvsc: ENST00000409184.3:c.775+793A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000400146
  ensembl transcript: ENST00000452626
  gene symbol: COBLL1
  hgvsc: ENST00000452626.1:c.668+793A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000491126
  gene symbol: COBLL1
  hgvsc: ENST00000491126.2:n.226-22071A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000364607
  ensembl transcript: ENST00000375458
  gene symbol: COBLL1
  hgvsc: ENST00000375458.2:c.661+793A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl protein: ENSP00000376478
  ensembl transcript: ENST00000392717
  gene symbol: COBLL1
  hgvsc: ENST00000392717.2:c.775+793A>G
  variant of: http://identifiers.org/hgnc/23571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082438
  ensembl transcript: ENST00000434366
  gene symbol: COBLL1
  hgvsc: ENST00000434366.1:n.365+16511A>G
  variant of: http://identifiers.org/hgnc/23571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

GenotypeQuality
all individuals: 8186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13397
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1877
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3781
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3256
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.640371229698376e-4
allele num: 8620
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.181844e6

VQSLOD
type: SiteQuality
SIO_000300: -2.567e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

FS
type: SiteQuality
SIO_000300: 8.404e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13395
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22746
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8190
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997181324777355e-5
allele num: 66698
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.259e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 2.181968e6

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13389
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997541008186643e-5
allele num: 66694
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

FS
type: SiteQuality
SIO_000300: 4.986e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

DP
type: SiteQuality
SIO_000300: 2.182211e6

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

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

GenotypeQuality
all individuals: 3252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8199
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13388
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.092e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.298e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.181977e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.016e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

GenotypeQuality
all individuals: 22817
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

FS
type: SiteQuality
SIO_000300: 4.378e0

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 2.182013e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.191e0

QD
type: SiteQuality
SIO_000300: 1.053e1

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

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8210
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.643e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

FS
type: SiteQuality
SIO_000300: 2.313e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.182034e6

QD
type: SiteQuality
SIO_000300: 1.074e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

GenotypeQuality
all individuals: 13381
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3781
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22816
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.247e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.337e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
SIO_000300: 2.182194e6

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 3780
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3247
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13380
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.02571860816944e-4
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.274e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.182066e6

GenotypeQuality
all individuals: 22814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4403
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8213
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.182013e6

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13380
bin: 9.75e1
variant carriers: 5

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.460806367883717e-4
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.18198e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

GenotypeQuality
all individuals: 22847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

FS
type: SiteQuality
SIO_000300: 2.467e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.842e0

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

DP
type: SiteQuality
SIO_000300: 2.181793e6

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeQuality
all individuals: 3238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13378
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1880
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8222
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2835
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3776
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.377000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.596e0

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

DP
type: SiteQuality
SIO_000300: 2.181794e6

QD
type: SiteQuality
SIO_000300: 1.35e1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4398
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13380
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1880
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.101e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

QD
type: SiteQuality
SIO_000300: 1.385e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 2.181608e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

GenotypeQuality
all individuals: 4396
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13375
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3234
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.776e0

DP
type: SiteQuality
SIO_000300: 2.181265e6

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

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13371
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 2.180505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

FS
type: SiteQuality
SIO_000300: 4.817e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.89e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

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

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3225
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13369
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 4377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049506731836037e-4
allele num: 66698
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 2.18012e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
all individuals: 3223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22867
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2834
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1875
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13362
bin: 9.75e1
variant carriers: 2

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

DP
type: SiteQuality
SIO_000300: 2.179756e6

VQSLOD
type: SiteQuality
SIO_000300: -5.337e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.1802e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

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

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

GenotypeQuality
all individuals: 3752
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8193
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13375
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2831
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22807
bin: 6.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.178868e6

QD
type: SiteQuality
SIO_000300: 1.263e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.427e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

GenotypeQuality
all individuals: 3752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2831
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8193
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13375
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 22807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.211754013935171e-3
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.200042000420004e-4
allele num: 66666
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.178868e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.427e0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

GenotypeQuality
all individuals: 216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13344
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22694
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.608e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.211e0

QD
type: SiteQuality
SIO_000300: 1.369e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.175716e6

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

GenotypeQuality
all individuals: 1863
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13344
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3201
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 5.785e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.124e1

DP
type: SiteQuality
SIO_000300: 2.175433e6

VQSLOD
type: SiteQuality
SIO_000300: -1.666e0

QD
type: SiteQuality
SIO_000300: 1.411e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

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

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8159
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2831
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

DP
type: SiteQuality
SIO_000300: 2.172915e6

FS
type: SiteQuality
SIO_000300: 1.253e0

QD
type: SiteQuality
SIO_000300: 1.172e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8115
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4332
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13326
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22491
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.169302e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

FS
type: SiteQuality
SIO_000300: 1.912e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeDepth
all individuals: 401
bin: 7.25e1
variant carriers: 12

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13433
bin: 9.75e1
variant carriers: 349

GenotypeQuality
all individuals: 275
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 310
allele frequency: 4.6774096203754e-3
allele num: 66276
num of homozygotes: 1

Latino
type: Population
allele count: 14
allele frequency: 1.215277777777778e-3
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.848578111535148e-4
allele num: 16246
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.882989183874139e-4
allele num: 10170
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.47e0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.526e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.14137e6

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13172
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7540
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.846396218983852e-5
allele num: 10156
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

FS
type: SiteQuality
SIO_000300: 9.826000000000001e0

DP
type: SiteQuality
SIO_000300: 2.129816e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

QD
type: SiteQuality
SIO_000300: 1.411e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

GenotypeQuality
all individuals: 838
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13155
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4092
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66014
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.982553528945282e-4
allele num: 10088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.262e1

FS
type: SiteQuality
SIO_000300: 4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

DP
type: SiteQuality
SIO_000300: 2.089437e6

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13153
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1897
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65882
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.242197253433208e-5
allele num: 16020
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.791e0

VQSLOD
type: SiteQuality
SIO_000300: -2.442e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.28e-1

QD
type: SiteQuality
SIO_000300: 7.98e0

DP
type: SiteQuality
SIO_000300: 2.048531e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -2.033e0

FS
type: SiteQuality
SIO_000300: 4.866e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11066
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13156
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3597
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.565486094604231e-4
allele num: 8414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529613313754283e-5
allele num: 65376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.415e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.981964e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

QD
type: SiteQuality
SIO_000300: 3.38e0

FS
type: SiteQuality
SIO_000300: 1.204e0

MQ
type: SiteQuality
SIO_000300: 5.285e1

GenotypeQuality
all individuals: 1457
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3922
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13154
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 245
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2965
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10372
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.011122345803842e-4
allele num: 9890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.065415976948072e-5
allele num: 65244
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.446e1

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 1.977953e6

FS
type: SiteQuality
SIO_000300: 3.979e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

GenotypeQuality
all individuals: 5065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3929
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13153
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1708
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.074936195073952e-5
allele num: 65042
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.553e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.174e0

DP
type: SiteQuality
SIO_000300: 1.974747e6

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.306e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.67e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 1.2148e1

GenotypeQuality
all individuals: 1339
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3929
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13153
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 340
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.413545407901488e-5
allele num: 15592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.889e1

FS
type: SiteQuality
SIO_000300: 1.2148e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.974747e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.306e0

VQSLOD
type: SiteQuality
SIO_000300: -1.553e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.174e0

QD
type: SiteQuality
SIO_000300: 1.67e1

GenotypeQuality
all individuals: 1110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22367
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6682
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 564
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4939
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585489599188229e-5
allele num: 63072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.42e0

DP
type: SiteQuality
SIO_000300: 1.716849e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 4.692e0

GenotypeQuality
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6684
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1582
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24422
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63040
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.451e0

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

DP
type: SiteQuality
SIO_000300: 1.71865e6

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 576
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4611
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6709
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.179346962133978e-5
allele num: 62906
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.234567901234568e-3
allele num: 810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

East Asian
type: Population
allele count: 33
allele frequency: 4.008746355685131e-3
allele num: 8232
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.81478701444924e-4
allele num: 10658
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.735294e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.3e1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

GenotypeQuality
all individuals: 1583
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6678
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.026904908605463e-4
allele num: 9738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
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: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.526e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.712e0

QD
type: SiteQuality
SIO_000300: 2.165e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 1.761849e6

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32023
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6130
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 757
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1781
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.008878127522195e-4
allele num: 9912
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.76272e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -5.557e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.746e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 262
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6148
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 756
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575150426865766e-5
allele num: 63486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.544e-1

QD
type: SiteQuality
SIO_000300: 1.855e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 2.346e0

DP
type: SiteQuality
SIO_000300: 1.765586e6

GenotypeDepth
all individuals: 255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6678
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1600
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.143863179074447e-5
allele num: 63616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -3.413e-1

FS
type: SiteQuality
SIO_000300: 4.095e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.769393e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.006e0

QD
type: SiteQuality
SIO_000300: 1.071e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeDepth
all individuals: 249
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3358
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6676
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32881
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6171
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63662
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: 1.02880658436214e-4
allele num: 9720
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 1.455e0

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 1.770021e6

GenotypeDepth
all individuals: 829
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 755
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6676
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569858712715855e-5
allele num: 63700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

QD
type: SiteQuality
SIO_000300: 7.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: -1.956e0

DP
type: SiteQuality
SIO_000300: 1.771586e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.2175e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

GenotypeDepth
all individuals: 1171
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 755
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1559
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6169
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6681
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33035
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.708984742889433e-5
allele num: 63708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.03777501037775e-4
allele num: 9636
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.084133142740453e-4
allele num: 9794
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.772366e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

QD
type: SiteQuality
SIO_000300: 1.183e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

FS
type: SiteQuality
SIO_000300: 5.94e-1

GenotypeDepth
all individuals: 250
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 753
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6680
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 33077
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 8.25e1
variant carriers: 1

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

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

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

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

South Asian
type: Population
allele count: 7
allele frequency: 7.290147885857113e-4
allele num: 9602
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57035175879397e-5
allele num: 63680
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178689297501179e-4
allele num: 8484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 9.07e0

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

DP
type: SiteQuality
SIO_000300: 1.773211e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 7.546e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeDepth
all individuals: 157
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6185
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6676
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.357934449422306e-4
allele num: 8482
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63700
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.078137988362427e-4
allele num: 9624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

DP
type: SiteQuality
SIO_000300: 1.772775e6

FS
type: SiteQuality
SIO_000300: 6.564e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32958
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 262
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6673
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6154
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.769963e6

MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 3.458e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 367
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6673
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2614
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.05241001894338e-4
allele num: 9502
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 3.458e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

DP
type: SiteQuality
SIO_000300: 1.769963e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

GenotypeDepth
all individuals: 256
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1569
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6672
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1770
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6148
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573069057731634e-5
allele num: 63570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.504e-1

DP
type: SiteQuality
SIO_000300: 1.769011e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.197e0

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

GenotypeDepth
all individuals: 762
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6672
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32887
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6139
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57410905427528e-5
allele num: 63528
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 2.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.345e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

DP
type: SiteQuality
SIO_000300: 1.768077e6

QD
type: SiteQuality
SIO_000300: 1.479e1

GenotypeDepth
all individuals: 827
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32897
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 283
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4055
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6671
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57400994774287e-5
allele num: 63532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.519e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.767906e6

FS
type: SiteQuality
SIO_000300: 1.987e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

GenotypeDepth
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6673
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6106
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 752
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3721
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 310
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.321112515802781e-5
allele num: 63280
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 2.341e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.760302e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.25e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeDepth
all individuals: 930
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2258
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2604
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32549
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6103
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6673
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3683
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.161755406601745e-5
allele num: 63256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.189909566872918e-4
allele num: 8404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.639e0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

DP
type: SiteQuality
SIO_000300: 1.759305e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeDepth
all individuals: 15709
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32236
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6674
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 206
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62986
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.146633102580239e-4
allele num: 9534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 1.2828e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.519e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

DP
type: SiteQuality
SIO_000300: 1.751307e6

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

GenotypeDepth
all individuals: 140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32236
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6059
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2036
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6674
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 751
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587654399390341e-5
allele num: 62986
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.519e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 1.2828e1

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.751307e6

GenotypeDepth
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31942
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6672
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.089799476896251e-4
allele num: 9176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62874
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.74575e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.437e0

FS
type: SiteQuality
SIO_000300: 7.537e0

VQSLOD
type: SiteQuality
SIO_000300: -4.039e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e0

MQRankSum
type: SiteQuality
SIO_000300: -1.227e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeDepth
all individuals: 140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6672
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.098418277680141e-4
allele num: 9104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

QD
type: SiteQuality
SIO_000300: 1.184e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.778e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.738769e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

GenotypeDepth
all individuals: 1828
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6671
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598005688900252e-5
allele num: 62578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.856e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.36e1

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

DP
type: SiteQuality
SIO_000300: 1.733303e6

MQ
type: SiteQuality
SIO_000300: 5.886e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeDepth
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14791
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 928
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5942
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6672
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3652
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.106439477760567e-4
allele num: 9038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9456
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

QD
type: SiteQuality
SIO_000300: 1.739e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.729266e6

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

GenotypeQuality
all individuals: 417
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4114
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6671
bin: 9.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.250975292587776e-5
allele num: 61520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.053e0

MQ
type: SiteQuality
SIO_000300: 5.456e1

DP
type: SiteQuality
SIO_000300: 1.665005e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.506e0

VQSLOD
type: SiteQuality
SIO_000300: -9.146e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
all individuals: 346
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6668
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1705
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.265626020508131e-5
allele num: 61244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.349e-1

FS
type: SiteQuality
SIO_000300: 3.802e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

DP
type: SiteQuality
SIO_000300: 1.629506e6

MQRankSum
type: SiteQuality
SIO_000300: -2.659e0

MQ
type: SiteQuality
SIO_000300: 5.161e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
all individuals: 534
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2314
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17547
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.13869278068777e-4
allele num: 8782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60488
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.14e-2

QD
type: SiteQuality
SIO_000300: 1.794e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.49e0

DP
type: SiteQuality
SIO_000300: 1.606692e6

GenotypeQuality
all individuals: 534
bin: 5.25e1
variant carriers: 95

GenotypeQuality
all individuals: 2839
bin: 3.25e1
variant carriers: 41

GenotypeQuality
all individuals: 1732
bin: 2.75e1
variant carriers: 64

GenotypeQuality
all individuals: 1046
bin: 8.25e1
variant carriers: 117

GenotypeQuality
all individuals: 17547
bin: 9.75e1
variant carriers: 13748

GenotypeQuality
all individuals: 1570
bin: 7.75e1
variant carriers: 105

GenotypeQuality
all individuals: 14477
bin: 6.25e1
variant carriers: 131

GenotypeQuality
all individuals: 464
bin: 1.25e1
variant carriers: 59

GenotypeQuality
all individuals: 801
bin: 9.25e1
variant carriers: 135

GenotypeQuality
all individuals: 992
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 95

GenotypeQuality
all individuals: 4129
bin: 2.25e1
variant carriers: 89

GenotypeQuality
all individuals: 3414
bin: 6.75e1
variant carriers: 111

GenotypeQuality
all individuals: 857
bin: 4.75e1
variant carriers: 68

GenotypeQuality
all individuals: 3592
bin: 7.5e0
variant carriers: 61

GenotypeQuality
all individuals: 370
bin: 5.75e1
variant carriers: 92

GenotypeQuality
all individuals: 825
bin: 4.25e1
variant carriers: 31

GenotypeQuality
all individuals: 2314
bin: 3.75e1
variant carriers: 51

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 66

European (Finnish)
type: Population
allele count: 814
allele frequency: 1.248849340288432e-1
allele num: 6518
num of homozygotes: 56

South Asian
type: Population
allele count: 883
allele frequency: 1.005465725347301e-1
allele num: 8782
num of homozygotes: 49

African
type: Population
allele count: 3088
allele frequency: 3.324004305705059e-1
allele num: 9290
num of homozygotes: 512

Other
type: Population
allele count: 100
allele frequency: 1.326259946949602e-1
allele num: 754
num of homozygotes: 10

Latino
type: Population
allele count: 847
allele frequency: 7.580096652944335e-2
allele num: 11174
num of homozygotes: 41

East Asian
type: Population
allele count: 908
allele frequency: 1.156687898089172e-1
allele num: 7850
num of homozygotes: 52

European (Non-Finnish)
type: Population
allele count: 9268
allele frequency: 1.532204734823436e-1
allele num: 60488
num of homozygotes: 640

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 1.606692e6

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.14e-2

QD
type: SiteQuality
SIO_000300: 1.794e1

VQSLOD
type: SiteQuality
SIO_000300: 6.49e0

GenotypeQuality
all individuals: 577
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4827
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4750
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4319
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5482
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 592
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.022013713460844e-5
allele num: 11084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.680051073552636e-5
allele num: 59522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 4.334e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.997e0

DP
type: SiteQuality
SIO_000300: 1.444423e6

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 870
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.414427157001414e-4
allele num: 7070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

DP
type: SiteQuality
SIO_000300: 2.37239e5

VQSLOD
type: SiteQuality
SIO_000300: -1.248e0

QD
type: SiteQuality
SIO_000300: 1.899e1

FS
type: SiteQuality
SIO_000300: 2.831e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 873
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 546
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 1.129305477131564e-3
allele num: 7084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

DP
type: SiteQuality
SIO_000300: 2.3835e5

QD
type: SiteQuality
SIO_000300: 1.22e1

FS
type: SiteQuality
SIO_000300: 1.699e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 917
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 501
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.349892008639309e-4
allele num: 7408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.528e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.572e0

QD
type: SiteQuality
SIO_000300: 1.294e1

FS
type: SiteQuality
SIO_000300: 6.839e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.221e0

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

DP
type: SiteQuality
SIO_000300: 2.59259e5

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

GenotypeQuality
all individuals: 138
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 252
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 860
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 990
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

DP
type: SiteQuality
SIO_000300: 2.64448e5

FS
type: SiteQuality
SIO_000300: 2.31039e2

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e0

VQSLOD
type: SiteQuality
SIO_000300: -2.493e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.536e0

QD
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
all individuals: 202
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4343
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 224
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 854
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1671
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 134
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 2

Other
type: Population
allele count: 2
allele frequency: 9.803921568627451e-3
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 8.114856429463172e-3
allele num: 1602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.506e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

FS
type: SiteQuality
SIO_000300: 4.18299e2

DP
type: SiteQuality
SIO_000300: 2.57649e5

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.928e2

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 3.4e-1

GenotypeQuality
all individuals: 309
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.364e0

DP
type: SiteQuality
SIO_000300: 2.49453e5

QD
type: SiteQuality
SIO_000300: 6.63e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 396
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.98003992015968e-4
allele num: 1002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.587e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

DP
type: SiteQuality
SIO_000300: 2.43113e5

VQSLOD
type: SiteQuality
SIO_000300: -1.781e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

QD
type: SiteQuality
SIO_000300: 1.437e1