13-40229974-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40229974
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40229974
    reference: chr 13
allele count: 1
allele frequency: 1.22561035395627e-5
allele num: 81592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.111C>G
  hgvsp: ENST00000543790.1:c.111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.111C>G
  hgvsp: ENST00000542266.1:c.111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.111C>G
  hgvsp: ENST00000422759.2:c.111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.111C>G
  hgvsp: ENST00000543804.1:c.111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.111C>G
  hgvsp: ENST00000416691.1:c.111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.111C>G
  hgvsp: ENST00000356576.4:c.111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.111C>G
  hgvsp: ENST00000455146.3:c.111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5599
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg37Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

13-40229982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40229982
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40229982
    reference: chr 13
allele count: 8
allele frequency: 9.714396735962697e-5
allele num: 82352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.119A>G
  hgvsp: ENSP00000441297.1:p.His40Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.119A>G
  hgvsp: ENSP00000397441.2:p.His40Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.119A>G
  hgvsp: ENSP00000440438.1:p.His40Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.119A>G
  hgvsp: ENSP00000348983.4:p.His40Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.119A>G
  hgvsp: ENSP00000412877.2:p.His40Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.119A>G
  hgvsp: ENSP00000440473.1:p.His40Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.119A>G
  hgvsp: ENSP00000403733.1:p.His40Arg
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13648
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His40Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

13-40229986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40229986
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40229986
    reference: chr 13
allele count: 2
allele frequency: 2.427184466019418e-5
allele num: 82400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.123G>A
  hgvsp: ENST00000543804.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.123G>A
  hgvsp: ENST00000542266.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.123G>A
  hgvsp: ENST00000416691.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.123G>A
  hgvsp: ENST00000455146.3:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.123G>A
  hgvsp: ENST00000422759.2:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.123G>A
  hgvsp: ENST00000543790.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.123G>A
  hgvsp: ENST00000356576.4:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13849
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys41Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

13-40229988-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40229988
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40229988
    reference: chr 13
allele count: 2
allele frequency: 2.42418365615379e-5
allele num: 82502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.125T>G
  hgvsp: ENSP00000348983.4:p.Ile42Ser
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.125T>G
  hgvsp: ENSP00000403733.1:p.Ile42Ser
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.125T>G
  hgvsp: ENSP00000397441.2:p.Ile42Ser
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.125T>G
  hgvsp: ENSP00000440473.1:p.Ile42Ser
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.125T>G
  hgvsp: ENSP00000440438.1:p.Ile42Ser
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.125T>G
  hgvsp: ENSP00000412877.2:p.Ile42Ser
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.125T>G
  hgvsp: ENSP00000441297.1:p.Ile42Ser
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21912
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile42Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

13-40229989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40229989
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40229989
    reference: chr 13
allele count: 1
allele frequency: 1.215037301645161e-5
allele num: 82302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.126C>T
  hgvsp: ENST00000543804.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.126C>T
  hgvsp: ENST00000542266.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.126C>T
  hgvsp: ENST00000422759.2:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.126C>T
  hgvsp: ENST00000416691.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.126C>T
  hgvsp: ENST00000543790.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.126C>T
  hgvsp: ENST00000356576.4:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.126C>T
  hgvsp: ENST00000455146.3:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile42Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

13-40229991-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40229991
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40229991
    reference: chr 13
allele count: 1
allele frequency: 1.213975283463229e-5
allele num: 82374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.128T>C
  hgvsp: ENSP00000441297.1:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.128T>C
  hgvsp: ENSP00000348983.4:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.128T>C
  hgvsp: ENSP00000397441.2:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.128T>C
  hgvsp: ENSP00000440438.1:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.128T>C
  hgvsp: ENSP00000440473.1:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.128T>C
  hgvsp: ENSP00000412877.2:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.128T>C
  hgvsp: ENSP00000403733.1:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu43Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

13-40229996-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40229996
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40229996
    reference: chr 13
allele count: 1
allele frequency: 1.218026796589525e-5
allele num: 82100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.133A>G
  hgvsp: ENSP00000412877.2:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.133A>G
  hgvsp: ENSP00000348983.4:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.133A>G
  hgvsp: ENSP00000441297.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.133A>G
  hgvsp: ENSP00000403733.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.133A>G
  hgvsp: ENSP00000440438.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.133A>G
  hgvsp: ENSP00000440473.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.133A>G
  hgvsp: ENSP00000397441.2:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr45Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

13-40229997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40229997
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40229997
    reference: chr 13
allele count: 1
allele frequency: 1.21921482565228e-5
allele num: 82020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.134C>T
  hgvsp: ENSP00000441297.1:p.Thr45Met
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.134C>T
  hgvsp: ENSP00000440473.1:p.Thr45Met
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.134C>T
  hgvsp: ENSP00000403733.1:p.Thr45Met
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.134C>T
  hgvsp: ENSP00000397441.2:p.Thr45Met
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.134C>T
  hgvsp: ENSP00000440438.1:p.Thr45Met
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.134C>T
  hgvsp: ENSP00000412877.2:p.Thr45Met
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.134C>T
  hgvsp: ENSP00000348983.4:p.Thr45Met
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14002
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr45Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

13-40230000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230000
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230000
    reference: chr 13
allele count: 2
allele frequency: 2.437656924164493e-5
allele num: 82046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.137G>A
  hgvsp: ENSP00000348983.4:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.137G>A
  hgvsp: ENSP00000440473.1:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.137G>A
  hgvsp: ENSP00000441297.1:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.137G>A
  hgvsp: ENSP00000440438.1:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.137G>A
  hgvsp: ENSP00000412877.2:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.137G>A
  hgvsp: ENSP00000397441.2:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.137G>A
  hgvsp: ENSP00000403733.1:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14359
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22234
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg46Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

13-40230014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230014
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230014
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 80974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.151A>G
  hgvsp: ENSP00000403733.1:p.Lys51Glu
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.151A>G
  hgvsp: ENSP00000441297.1:p.Lys51Glu
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.151A>G
  hgvsp: ENSP00000440438.1:p.Lys51Glu
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.151A>G
  hgvsp: ENSP00000412877.2:p.Lys51Glu
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.151A>G
  hgvsp: ENSP00000348983.4:p.Lys51Glu
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.151A>G
  hgvsp: ENSP00000440473.1:p.Lys51Glu
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.151A>G
  hgvsp: ENSP00000397441.2:p.Lys51Glu
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16752
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5596
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys51Glu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

13-40230015-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230015
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230015
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 80844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.152A>G
  hgvsp: ENSP00000440473.1:p.Lys51Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.152A>G
  hgvsp: ENSP00000412877.2:p.Lys51Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.152A>G
  hgvsp: ENSP00000403733.1:p.Lys51Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.152A>G
  hgvsp: ENSP00000440438.1:p.Lys51Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.152A>G
  hgvsp: ENSP00000441297.1:p.Lys51Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.152A>G
  hgvsp: ENSP00000348983.4:p.Lys51Arg
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.152A>G
  hgvsp: ENSP00000397441.2:p.Lys51Arg
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16739
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23186
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys51Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

13-40230023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230023
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230023
    reference: chr 13
allele count: 4
allele frequency: 5.154107823935677e-5
allele num: 77608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+7G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+7G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+7G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+7G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+7G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+7G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+7G>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18101
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5600
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 0
hgvs: c.153+7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

13-40230026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230026
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230026
    reference: chr 13
allele count: 1
allele frequency: 1.284323546787907e-5
allele num: 77862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+10G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+10G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+10G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+10G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+10G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+10G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+10G>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6671
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-40230027-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230027
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230027
    reference: chr 13
allele count: 1
allele frequency: 1.298768767208686e-5
allele num: 76996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+11C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+11C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+11C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+11C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+11C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+11C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+11C>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18028
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5593
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

13-40230027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230027
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230027
    reference: chr 13
allele count: 1
allele frequency: 1.298768767208686e-5
allele num: 76996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+11C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+11C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+11C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+11C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+11C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+11C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+11C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5593
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

13-40230033-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230033
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230033
    reference: chr 13
allele count: 1
allele frequency: 1.333866880085368e-5
allele num: 74970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+17G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+17G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+17G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+17G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+17G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+17G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+17G>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17795
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5596
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

13-40230035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230035
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230035
    reference: chr 13
allele count: 403
allele frequency: 5.405332904125757e-3
allele num: 74556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+19G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+19G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+19G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+19G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+19G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+19G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+19G>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 1.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 17678
  bin: 1.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 2.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17774
  bin: 7.5e0
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 20791
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 5.25e1
  variant carriers: 7
num of homozygotes: 3
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

13-40230043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230043
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230043
    reference: chr 13
allele count: 35095
allele frequency: 4.75696703535025e-1
allele num: 73776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+27C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+27C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+27C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+27C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+27C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+27C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+27C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 2.5e0
  variant carriers: 781
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 520
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 1.75e1
  variant carriers: 7212
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.25e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 16652
  bin: 7.5e0
  variant carriers: 8109
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 426
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 2.25e1
  variant carriers: 2583
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.25e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 18370
  bin: 1.25e1
  variant carriers: 12023
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 438
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 758
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 2.75e1
  variant carriers: 775
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 484
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 1.75e1
  variant carriers: 1210
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 1102
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 2.75e1
  variant carriers: 1054
genotype quality: GenotypeQuality
  all individuals: 10720
  bin: 2.25e1
  variant carriers: 1569
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 552
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.25e1
  variant carriers: 766
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 2.5e0
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.75e1
  variant carriers: 661
genotype quality: GenotypeQuality
  all individuals: 21298
  bin: 9.75e1
  variant carriers: 20489
num of homozygotes: 7789
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-40230044-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230044
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230044
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 64040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+28A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+28A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+28A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+28A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+28A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+28A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+28A>C
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

13-40230045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230045
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230045
    reference: chr 13
allele count: 1
allele frequency: 1.589319771137953e-5
allele num: 62920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+29C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+29C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+29C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+29C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+29C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+29C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+29C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

13-40230054-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230054
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230053
    reference: chr 13
allele count: 2
allele frequency: 3.587315253264457e-5
allele num: 55752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+39delC
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+39delC
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+39delC
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+39delC
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+39delC
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+39delC
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+39delC
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16753
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: GC
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/13-40230055-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230055
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230055
    reference: chr 13
allele count: 1
allele frequency: 1.800374477891401e-5
allele num: 55544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+39C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+39C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+39C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+39C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+39C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+39C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+39C>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16737
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

13-40230066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230066
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230066
    reference: chr 13
allele count: 2834
allele frequency: 5.817629428911607e-2
allele num: 48714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+50C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+50C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+50C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+50C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+50C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+50C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+50C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 1.75e1
  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 2.5e0
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 24490
  bin: 7.5e0
  variant carriers: 1370
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 14032
  bin: 1.25e1
  variant carriers: 1145
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5746
  bin: 1.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 2.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 5677
  bin: 9.75e1
  variant carriers: 2582
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.25e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 3.25e1
  variant carriers: 44
num of homozygotes: 149
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-40230067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230067
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230067
    reference: chr 13
allele count: 4
allele frequency: 8.630734043930436e-5
allele num: 46346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+51G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+51G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.153+51G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.153+51G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+51G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+51G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+51G>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24685
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13876
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12637
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

13-40230204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230204
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230204
    reference: chr 13
allele count: 26
allele frequency: 2.195204322863897e-3
allele num: 11844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.154-50A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+188A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+188A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.154-50A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+188A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+188A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+188A>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

13-40230216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230216
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230216
    reference: chr 13
allele count: 6074
allele frequency: 5.2039067854695e-1
allele num: 11672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.154-38G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+200G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+200G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+200G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.154-38G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+200G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+200G>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 300
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 2.5e0
  variant carriers: 769
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 688
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 476
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.75e1
  variant carriers: 343
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 400
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 404
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 295
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 7.5e0
  variant carriers: 467
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 2.5e0
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 6.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 25
num of homozygotes: 1606
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

13-40230222-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230222
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230222
    reference: chr 13
allele count: 2
allele frequency: 1.750393838613688e-4
allele num: 11426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+206G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+206G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.154-32G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.154-32G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+206G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+206G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+206G>C
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

13-40230224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230224
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230224
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 11430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.154-30G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+208G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+208G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.154-30G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+208G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+208G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+208G>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

13-40230229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230229
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230229
    reference: chr 13
allele count: 5961
allele frequency: 5.229864888576944e-1
allele num: 11398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.154-25C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+213C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+213C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+213C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+213C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+213C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.154-25C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.25e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 9.75e1
  variant carriers: 2374
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 2.5e0
  variant carriers: 702
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.5e0
  variant carriers: 440
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 2.5e0
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.25e1
  variant carriers: 20
num of homozygotes: 1590
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS

13-40230233-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230233
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230233
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 11086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.154-21G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+217G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+217G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+217G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.154-21G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+217G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+217G>C
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

13-40230241-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230241
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230241
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 11024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.154-13T>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+225T>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.154-13T>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+225T>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+225T>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+225T>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+225T>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5281
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

13-40230256-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230256
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230256
    reference: chr 13
allele count: 1
allele frequency: 9.149130832570906e-5
allele num: 10930
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+240G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+240G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+240G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.156G>T
  hgvsp: ENST00000542266.1:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+240G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+240G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.156G>T
  hgvsp: ENST00000543790.1:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
hgvs: c.156G>T
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

13-40230273-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230273
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230273
    reference: chr 13
allele count: 1
allele frequency: 9.189487226612754e-5
allele num: 10882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.173G>T
  hgvsp: ENSP00000441297.1:p.Gly58Val
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+257G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+257G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+257G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.173G>T
  hgvsp: ENSP00000440438.1:p.Gly58Val
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+257G>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+257G>T
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly58Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

13-40230278-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230278
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230278
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 10876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+262G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.178G>C
  hgvsp: ENSP00000440438.1:p.Asp60His
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.178G>C
  hgvsp: ENSP00000441297.1:p.Asp60His
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+262G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+262G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+262G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+262G>C
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp60His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

13-40230288-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230288
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230288
    reference: chr 13
allele count: 1
allele frequency: 9.211495946941784e-5
allele num: 10856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+272C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+272C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+272C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+272C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+272C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

13-40230294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230294
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230294
    reference: chr 13
allele count: 5710
allele frequency: 5.241417293923261e-1
allele num: 10894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+278T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+278T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*8T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*8T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+278T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+278T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+278T>C
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 2.5e0
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 9.75e1
  variant carriers: 3300
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 7.5e0
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 6.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 30
num of homozygotes: 1546
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

13-40230305-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230305
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230305
    reference: chr 13
allele count: 2
allele frequency: 1.844678103670909e-4
allele num: 10842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+289G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+289G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+289G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*19G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+289G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*19G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+289G>C
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/13-40230313-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230313
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230312
    reference: chr 13
allele count: 25
allele frequency: 2.306698652887987e-3
allele num: 10838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*30delA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+300delA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+300delA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*30delA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+300delA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+300delA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+300delA
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: CA
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

13-40230322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230322
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230322
    reference: chr 13
allele count: 3
allele frequency: 2.769571639586411e-4
allele num: 10832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+306C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+306C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+306C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+306C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.153+306C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5146
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

13-40230936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230936
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230936
    reference: chr 13
allele count: 4
allele frequency: 3.736920777279522e-4
allele num: 10704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+920C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*127-27C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+920C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+920C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+920C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.154-27C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*126+524C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

13-40230938-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230938
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230938
    reference: chr 13
allele count: 1
allele frequency: 9.335324869305452e-5
allele num: 10712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*126+526T>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*127-25T>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+922T>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+922T>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+922T>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+922T>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.154-25T>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

13-40230940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230940
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230940
    reference: chr 13
allele count: 3
allele frequency: 2.800074668657831e-4
allele num: 10714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+924C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+924C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*127-23C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+924C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*126+528C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+924C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.154-23C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

13-40230942-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230942
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230942
    reference: chr 13
allele count: 1
allele frequency: 9.33184023889511e-5
allele num: 10716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*127-21C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+926C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+926C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+926C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+926C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.154-21C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*126+530C>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

13-40230992-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230992
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230992
    reference: chr 13
allele count: 3
allele frequency: 2.788622420524261e-4
allele num: 10758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+976A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*126+580A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+976A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*156A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+976A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.183A>G
  hgvsp: ENST00000356576.4:c.183A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+976A>G
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser61Ser
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

13-40230999-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40230999
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40230999
    reference: chr 13
allele count: 1
allele frequency: 9.295408068414203e-5
allele num: 10758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*163T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+983T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+983T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+983T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+983T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.190T>C
  hgvsp: ENST00000356576.4:c.190T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*126+587T>C
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu64Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

13-40231027-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40231027
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40231027
    reference: chr 13
allele count: 1
allele frequency: 9.295408068414203e-5
allele num: 10758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*191G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.218G>C
  hgvsp: ENSP00000348983.4:p.Arg73Thr
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+1011G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+1011G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+1011G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*126+615G>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+1011G>C
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg73Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

13-40231051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40231051
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40231051
    reference: chr 13
allele count: 1
allele frequency: 9.295408068414203e-5
allele num: 10758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*191+24G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.153+1035G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.218+24G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*126+639G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.153+1035G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.153+1035G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.153+1035G>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

13-40233451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233451
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233451
    reference: chr 13
allele count: 10
allele frequency: 8.832985902554499e-5
allele num: 113212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-50A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-50A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-50A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-50A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-100A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-50A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-50A>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8445
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5646
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

13-40233452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233452
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233452
    reference: chr 13
allele count: 10
allele frequency: 8.838138334541213e-5
allele num: 113146
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-49C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-49C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-49C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-49C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-99C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-49C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-49C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

13-40233453-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233453
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233453
    reference: chr 13
allele count: 18
allele frequency: 1.592751212260645e-4
allele num: 113012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-98C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-48C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-48C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-48C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-48C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-48C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-48C>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5210
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

13-40233461-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233461
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233461
    reference: chr 13
allele count: 5
allele frequency: 4.399162399479139e-5
allele num: 113658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-40A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-40A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-40A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-40A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-40A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-40A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-90A>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

13-40233465-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233465
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233465
    reference: chr 13
allele count: 1
allele frequency: 8.789354334030623e-6
allele num: 113774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-36A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-36A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-86A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-36A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-36A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-36A>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-36A>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

13-40233466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233466
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233466
    reference: chr 13
allele count: 1
allele frequency: 8.785030308354564e-6
allele num: 113830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-35G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-35G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-35G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-35G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-35G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-35G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-85G>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

13-40233469-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233469
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233469
    reference: chr 13
allele count: 1
allele frequency: 8.75902179244622e-6
allele num: 114168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-32C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-82C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-32C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-32C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-32C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-32C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-32C>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

13-40233471-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233471
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233471
    reference: chr 13
allele count: 3
allele frequency: 2.617298598872817e-5
allele num: 114622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-30A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-30A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-30A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-30A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-80A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-30A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-30A>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28089
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

13-40233476-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233476
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233476
    reference: chr 13
allele count: 1
allele frequency: 8.649321893163576e-6
allele num: 115616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-25C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-25C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-75C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-25C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-25C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-25C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-25C>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

13-40233479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233479
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233479
    reference: chr 13
allele count: 1
allele frequency: 8.597417335832316e-6
allele num: 116314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-72T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-22T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-22T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-22T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-22T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-22T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-22T>C
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum

13-40233489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233489
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233489
    reference: chr 13
allele count: 3
allele frequency: 2.537427048972342e-5
allele num: 118230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-12C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-12C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-12C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-12C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-62C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-12C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-12C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32766
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

13-40233490-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233490
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233490
    reference: chr 13
allele count: 1
allele frequency: 8.447087444249223e-6
allele num: 118384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-11C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-11C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-11C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-61C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-11C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-11C>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-11C>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35641
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

13-40233494-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233494
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233494
    reference: chr 13
allele count: 1
allele frequency: 8.414533582403528e-6
allele num: 118842
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-7T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-7T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-7T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-7T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-7T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-7T>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-57T>C
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8449
  bin: 9.75e1
  variant carriers: 1
hgvs: c.154-7T>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

13-40233498-T-TCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233498
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233500
    reference: chr 13
allele count: 1
allele frequency: 8.386869517084054e-6
allele num: 119234
alternate allele: TCA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*127-3_*127-2insCA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.154-3_154-2insCA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.154-3_154-2insCA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*192-3_*192-2insCA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-53_154-52insCA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.154-3_154-2insCA
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.219-3_219-2insCA
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
hgvs: c.154-3_154-2insCA
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

13-40233502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233502
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233502
    reference: chr 13
allele count: 8
allele frequency: 6.687621213134488e-5
allele num: 119624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*128A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.155A>G
  hgvsp: ENSP00000412877.2:p.Glu52Gly
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.155A>G
  hgvsp: ENSP00000403733.1:p.Glu52Gly
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.220A>G
  hgvsp: ENSP00000348983.4:p.Arg74Gly
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.155A>G
  hgvsp: ENSP00000397441.2:p.Glu52Gly
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-49A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*193A>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu52Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/13-40233512-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233512
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233512
    reference: chr 13
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-39A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.165A>C
  hgvsp: ENSP00000403733.1:p.Glu55Asp
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.165A>C
  hgvsp: ENSP00000397441.2:p.Glu55Asp
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.165A>C
  hgvsp: ENSP00000412877.2:p.Glu55Asp
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*203A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*138A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.*2A>C
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu55Asp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

13-40233516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233516
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233516
    reference: chr 13
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*207C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.169C>T
  hgvsp: ENSP00000397441.2:p.Leu57Phe
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-35C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.169C>T
  hgvsp: ENSP00000403733.1:p.Leu57Phe
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.*6C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.169C>T
  hgvsp: ENSP00000412877.2:p.Leu57Phe
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu57Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

13-40233518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233518
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233518
    reference: chr 13
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.171C>T
  hgvsp: ENST00000455146.3:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.171C>T
  hgvsp: ENST00000422759.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*144C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-33C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.171C>T
  hgvsp: ENST00000416691.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*209C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.*8C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu57Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

13-40233521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233521
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233521
    reference: chr 13
allele count: 2
allele frequency: 1.657495193263939e-5
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.*11G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-30G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.174G>A
  hgvsp: ENST00000416691.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.174G>A
  hgvsp: ENST00000455146.3:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.174G>A
  hgvsp: ENST00000422759.2:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*212G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*147G>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys58Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/13-40233531-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233531
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233531
    reference: chr 13
allele count: 3
allele frequency: 2.480938125403152e-5
allele num: 120922
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.184A>C
  hgvsp: ENSP00000397441.2:p.Thr62Pro
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*222A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.184A>C
  hgvsp: ENSP00000412877.2:p.Thr62Pro
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.*21A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-20A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*157A>C
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.184A>C
  hgvsp: ENSP00000403733.1:p.Thr62Pro
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr62Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

13-40233531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233531
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233531
    reference: chr 13
allele count: 2
allele frequency: 1.653958750268768e-5
allele num: 120922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.*21A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*222A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.184A>G
  hgvsp: ENSP00000403733.1:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.184A>G
  hgvsp: ENSP00000412877.2:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.184A>G
  hgvsp: ENSP00000397441.2:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*157A>G
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-20A>G
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5924
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr62Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-40233532-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233532
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233532
    reference: chr 13
allele count: 2
allele frequency: 1.653739932858159e-5
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.*22C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.185C>A
  hgvsp: ENSP00000397441.2:p.Thr62Asn
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.185C>A
  hgvsp: ENSP00000403733.1:p.Thr62Asn
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*158C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.185C>A
  hgvsp: ENSP00000412877.2:p.Thr62Asn
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*223C>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-19C>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr62Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

13-40233550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233550
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233550
    reference: chr 13
allele count: 17
allele frequency: 1.403798513625103e-4
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.203G>A
  hgvsp: ENSP00000403733.1:p.Ser68Asn
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*176G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.203G>A
  hgvsp: ENSP00000412877.2:p.Ser68Asn
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*241G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.203G>A
  hgvsp: ENSP00000397441.2:p.Ser68Asn
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.*40G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.154-1G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000445217
  ensembl transcript: ENST00000536488
  gene symbol: COG6
  hgvsc: ENST00000536488.1:c.18G>A
  hgvsp: ENSP00000445217.1:p.Ser7Asn
  variant of: http://identifiers.org/hgnc/18621
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: c.154-1G>A
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

13-40233555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233555
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233555
    reference: chr 13
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000445217
  ensembl transcript: ENST00000536488
  gene symbol: COG6
  hgvsc: ENST00000536488.1:c.23C>T
  hgvsp: ENSP00000445217.1:p.Arg9Trp
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.158C>T
  hgvsp: ENSP00000440473.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.208C>T
  hgvsp: ENSP00000412877.2:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*181C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.*45C>T
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.208C>T
  hgvsp: ENSP00000397441.2:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.208C>T
  hgvsp: ENSP00000403733.1:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*246C>T
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg70Trp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

13-40233556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40233556
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 40233556
    reference: chr 13
allele count: 2
allele frequency: 1.651009592365732e-5
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000397441
  ensembl transcript: ENST00000455146
  gene symbol: COG6
  hgvsc: ENST00000455146.3:c.209G>A
  hgvsp: ENSP00000397441.2:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000348983
  ensembl transcript: ENST00000356576
  gene symbol: COG6
  hgvsc: ENST00000356576.4:c.*46G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000403733
  ensembl transcript: ENST00000416691
  gene symbol: COG6
  hgvsc: ENST00000416691.1:c.209G>A
  hgvsp: ENSP00000403733.1:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000412877
  ensembl transcript: ENST00000422759
  gene symbol: COG6
  hgvsc: ENST00000422759.2:c.209G>A
  hgvsp: ENSP00000412877.2:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440473
  ensembl transcript: ENST00000543804
  gene symbol: COG6
  hgvsc: ENST00000543804.1:c.159G>A
  hgvsp: ENST00000543804.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000440438
  ensembl transcript: ENST00000543790
  gene symbol: COG6
  hgvsc: ENST00000543790.1:c.*247G>A
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000445217
  ensembl transcript: ENST00000536488
  gene symbol: COG6
  hgvsc: ENST00000536488.1:c.24G>A
  hgvsp: ENSP00000445217.1:p.Arg9Gln
  variant of: http://identifiers.org/hgnc/18621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133103
  ensembl protein: ENSP00000441297
  ensembl transcript: ENST00000542266
  gene symbol: COG6
  hgvsc: ENST00000542266.1:c.*182G>A
  variant of: http://identifiers.org/hgnc/18621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Arg70Gln
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 21376
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12127
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2873
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4272
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.233638597274961e-5
allele num: 44770
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

QD
type: SiteQuality
SIO_000300: 6.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.513e0

VQSLOD
type: SiteQuality
SIO_000300: -2.484e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.903e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.184611e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21812
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5601
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 438
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3520
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.287282708142727e-4
allele num: 13116
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.687315634218289e-4
allele num: 8136
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.585288522511097e-4
allele num: 6308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45378
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.687478906513669e-4
allele num: 5926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2902
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

QD
type: SiteQuality
SIO_000300: 1.187e1

FS
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

DP
type: SiteQuality
SIO_000300: 1.201025e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.404898246850498e-5
allele num: 45404
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.08e1

MQRankSum
type: SiteQuality
SIO_000300: -8.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.203329e6

VQSLOD
type: SiteQuality
SIO_000300: 1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2912
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45474
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.171582619727244e-4
allele num: 6306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.094e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.33e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 1.205432e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

QD
type: SiteQuality
SIO_000300: 8.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.204585537918871e-5
allele num: 45360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13136
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

FS
type: SiteQuality
SIO_000300: 1.215e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.205247e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5598
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.688048615800135e-4
allele num: 5924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45396
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.207813e6

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

FS
type: SiteQuality
SIO_000300: 3.471e0

VQSLOD
type: SiteQuality
SIO_000300: -8.686e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 6.35e0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.687478906513669e-4
allele num: 5926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2918
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.27e1

FS
type: SiteQuality
SIO_000300: 4.643e0

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

DP
type: SiteQuality
SIO_000300: 1.201083e6

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45232
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.239464551313832e-4
allele num: 8068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13096
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 5.068e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.420866489832007e-5
allele num: 45240
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13102
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

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

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44554
num of homozygotes: 0

European (Finnish)
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allele count: 0
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ClippingRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13074
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

DP
type: SiteQuality
SIO_000300: 1.167208e6

GenotypeQuality
all individuals: 4358
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21919
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5906
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.398937920015038e-5
allele num: 42558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e-1

QD
type: SiteQuality
SIO_000300: 8.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

FS
type: SiteQuality
SIO_000300: 3.628e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

DP
type: SiteQuality
SIO_000300: 1.100155e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

GenotypeQuality
all individuals: 255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4493
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5502
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5596
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.741136398823347e-5
allele num: 12918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42710
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.74e-1

QD
type: SiteQuality
SIO_000300: 1.123e1

FS
type: SiteQuality
SIO_000300: 4.006e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.415e0

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

DP
type: SiteQuality
SIO_000300: 1.098707e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5597
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1501
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4504
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.369443654629893e-5
allele num: 42204
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

FS
type: SiteQuality
SIO_000300: 1.438e0

DP
type: SiteQuality
SIO_000300: 1.088129e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 318
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4504
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5597
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5551
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.369443654629893e-5
allele num: 42204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 1.438e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 1.088129e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e0

QD
type: SiteQuality
SIO_000300: 1.164e1

GenotypeQuality
all individuals: 1443
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4907
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20934
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4577
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.430133657351154e-5
allele num: 41150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.492e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 1.066927e6

QD
type: SiteQuality
SIO_000300: 3.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3740
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4144
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 4563
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5940
bin: 9.75e1
variant carriers: 377

GenotypeQuality
all individuals: 1911
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 575
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 5639
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 179
bin: 7.25e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 309
allele frequency: 7.560187903699354e-3
allele num: 40872
num of homozygotes: 3

Latino
type: Population
allele count: 44
allele frequency: 6.038978863573977e-3
allele num: 7286
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.1090573012939e-3
allele num: 5410
num of homozygotes: 0

South Asian
type: Population
allele count: 40
allele frequency: 3.149606299212598e-3
allele num: 12700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 8.163265306122449e-4
allele num: 2450
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.717472118959108e-3
allele num: 538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

FS
type: SiteQuality
SIO_000300: 1.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

DP
type: SiteQuality
SIO_000300: 1.063474e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

GenotypeQuality
all individuals: 738
bin: 7.75e1
variant carriers: 623

GenotypeQuality
all individuals: 2205
bin: 6.25e1
variant carriers: 794

GenotypeQuality
all individuals: 1161
bin: 1.25e1
variant carriers: 545

GenotypeQuality
all individuals: 2728
bin: 3.25e1
variant carriers: 1702

GenotypeQuality
all individuals: 3400
bin: 7.5e0
variant carriers: 446

GenotypeQuality
all individuals: 660
bin: 5.75e1
variant carriers: 632

GenotypeQuality
all individuals: 881
bin: 6.75e1
variant carriers: 651

GenotypeQuality
all individuals: 772
bin: 9.25e1
variant carriers: 668

GenotypeQuality
all individuals: 1019
bin: 5.25e1
variant carriers: 977

GenotypeQuality
all individuals: 819
bin: 4.25e1
variant carriers: 720

GenotypeQuality
all individuals: 1781
bin: 3.75e1
variant carriers: 1398

Other
type: Population
allele count: 254
allele frequency: 4.884615384615384e-1
allele num: 520
num of homozygotes: 55

European (Non-Finnish)
type: Population
allele count: 17005
allele frequency: 4.25125e-1
allele num: 40000
num of homozygotes: 3135

Latino
type: Population
allele count: 4881
allele frequency: 6.784820683903253e-1
allele num: 7194
num of homozygotes: 1582

South Asian
type: Population
allele count: 7339
allele frequency: 5.661934886591575e-1
allele num: 12962
num of homozygotes: 2045

East Asian
type: Population
allele count: 2467
allele frequency: 4.690114068441065e-1
allele num: 5260
num of homozygotes: 472

European (Finnish)
type: Population
allele count: 1039
allele frequency: 4.279242174629325e-1
allele num: 2428
num of homozygotes: 172

African
type: Population
allele count: 2110
allele frequency: 3.898743532889875e-1
allele num: 5412
num of homozygotes: 328

QD
type: SiteQuality
SIO_000300: 1.815e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.33e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 1.056181e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

GenotypeQuality
all individuals: 3952
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28436
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1940
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 1.076e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 8.57231e5

FS
type: SiteQuality
SIO_000300: 3.852e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeQuality
all individuals: 391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3952
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.34192037470726e-4
allele num: 4270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11648
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.47962e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.78e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

VQSLOD
type: SiteQuality
SIO_000300: -1.086e0

FS
type: SiteQuality
SIO_000300: 4.708e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.723e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

GenotypeQuality
all individuals: 11735
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4081
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3955
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22023
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.558643690939411e-4
allele num: 3598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 3.873e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.38e-2

QD
type: SiteQuality
SIO_000300: 1.423e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

DP
type: SiteQuality
SIO_000300: 8.05183e5

GenotypeQuality
all individuals: 11858
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3951
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.262855651265988e-5
allele num: 30648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4038
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.57e0

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.209e-1

DP
type: SiteQuality
SIO_000300: 8.04473e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

GenotypeQuality
all individuals: 400
bin: 4.25e1
variant carriers: 58

GenotypeQuality
all individuals: 449
bin: 7.75e1
variant carriers: 130

GenotypeQuality
all individuals: 12295
bin: 7.5e0
variant carriers: 56

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 130

GenotypeQuality
all individuals: 452
bin: 6.75e1
variant carriers: 75

GenotypeQuality
all individuals: 798
bin: 6.25e1
variant carriers: 65

GenotypeQuality
all individuals: 15835
bin: 2.25e1
variant carriers: 99

GenotypeQuality
all individuals: 5663
bin: 1.75e1
variant carriers: 114

GenotypeQuality
all individuals: 2987
bin: 2.75e1
variant carriers: 37

GenotypeQuality
all individuals: 498
bin: 9.25e1
variant carriers: 133

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 155

Other
type: Population
allele count: 28
allele frequency: 7.692307692307693e-2
allele num: 364
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 41
allele frequency: 3.317152103559871e-2
allele num: 1236
num of homozygotes: 0

South Asian
type: Population
allele count: 1465
allele frequency: 1.406760130593432e-1
allele num: 10414
num of homozygotes: 130

Latino
type: Population
allele count: 56
allele frequency: 1.635514018691589e-2
allele num: 3424
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 5.704506560182544e-3
allele num: 3506
num of homozygotes: 1

East Asian
type: Population
allele count: 85
allele frequency: 2.924982794218858e-2
allele num: 2906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1139
allele frequency: 4.239874925550923e-2
allele num: 26864
num of homozygotes: 17

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 8.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

QD
type: SiteQuality
SIO_000300: 1.506e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 7.82029e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6533
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3817
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25390
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.919263178522438e-4
allele num: 10206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1146
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 5.459e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.12e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

DP
type: SiteQuality
SIO_000300: 7.79541e5

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5090
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 37
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7797
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.983293556085919e-4
allele num: 3352
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 3.171247357293869e-3
allele num: 7568
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.944444444444444e-3
allele num: 144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

East Asian
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: 2
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.09e-2

QD
type: SiteQuality
SIO_000300: 1.549e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 3.60197e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 27

GenotypeQuality
all individuals: 69
bin: 6.25e1
variant carriers: 42

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 13

GenotypeQuality
all individuals: 5588
bin: 9.75e1
variant carriers: 4376

GenotypeQuality
all individuals: 272
bin: 2.25e1
variant carriers: 85

GenotypeQuality
all individuals: 163
bin: 1.25e1
variant carriers: 128

GenotypeQuality
all individuals: 31
bin: 7.75e1
variant carriers: 22

GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 19

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 68

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 16

GenotypeQuality
all individuals: 19
bin: 8.25e1
variant carriers: 16

South Asian
type: Population
allele count: 4157
allele frequency: 5.504502118644068e-1
allele num: 7552
num of homozygotes: 1174

African
type: Population
allele count: 176
allele frequency: 4.512820512820513e-1
allele num: 390
num of homozygotes: 33

European (Finnish)
type: Population
allele count: 2
allele frequency: 5.0e-1
allele num: 4
num of homozygotes: 1

Other
type: Population
allele count: 58
allele frequency: 4.603174603174603e-1
allele num: 126
num of homozygotes: 11

Latino
type: Population
allele count: 74
allele frequency: 5.522388059701493e-1
allele num: 134
num of homozygotes: 22

East Asian
type: Population
allele count: 96
allele frequency: 4.752475247524752e-1
allele num: 202
num of homozygotes: 23

European (Non-Finnish)
type: Population
allele count: 1511
allele frequency: 4.629289215686275e-1
allele num: 3264
num of homozygotes: 342

DP
type: SiteQuality
SIO_000300: 4.21334e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.982e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.797e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.51e0

QD
type: SiteQuality
SIO_000300: 2.017e1

GenotypeQuality
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5267
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.402048655569782e-4
allele num: 3124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7528
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.805e1

QD
type: SiteQuality
SIO_000300: 1.935e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.447e0

DP
type: SiteQuality
SIO_000300: 4.23058e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.65e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7528
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.862e0

DP
type: SiteQuality
SIO_000300: 4.23221e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-2

QD
type: SiteQuality
SIO_000300: 2.61e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
all individuals: 134
bin: 1.75e1
variant carriers: 103

GenotypeQuality
all individuals: 146
bin: 1.25e1
variant carriers: 116

GenotypeQuality
all individuals: 229
bin: 2.25e1
variant carriers: 68

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 14

GenotypeQuality
all individuals: 50
bin: 6.25e1
variant carriers: 34

GenotypeQuality
all individuals: 34
bin: 6.75e1
variant carriers: 26

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

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 24

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 22

GenotypeQuality
all individuals: 5516
bin: 9.75e1
variant carriers: 4307

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 24

South Asian
type: Population
allele count: 4140
allele frequency: 5.500930108955621e-1
allele num: 7526
num of homozygotes: 1168

East Asian
type: Population
allele count: 91
allele frequency: 5.0e-1
allele num: 182
num of homozygotes: 23

Other
type: Population
allele count: 57
allele frequency: 4.75e-1
allele num: 120
num of homozygotes: 11

European (Non-Finnish)
type: Population
allele count: 1441
allele frequency: 4.630462724935733e-1
allele num: 3112
num of homozygotes: 330

Latino
type: Population
allele count: 72
allele frequency: 5.901639344262295e-1
allele num: 122
num of homozygotes: 23

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

African
type: Population
allele count: 158
allele frequency: 4.730538922155689e-1
allele num: 334
num of homozygotes: 34

QD
type: SiteQuality
SIO_000300: 2.05e1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

DP
type: SiteQuality
SIO_000300: 5.10384e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.934e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

FS
type: SiteQuality
SIO_000300: 6.17e-1

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5281
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2928
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.294e0

DP
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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QD
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MQRankSum
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SIO_000300: 7.27e-1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
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SIO_000300: -4.85e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2882
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
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allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2830
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.421e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.776e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.257e0

ReadPosRankSum
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SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.632e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

DP
type: SiteQuality
SIO_000300: 5.0656e5

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

South Asian
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allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.78e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.277e0

QD
type: SiteQuality
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MQRankSum
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SIO_000300: -8.68e-1

FS
type: SiteQuality
SIO_000300: 1.398e0

BaseQRankSum
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SIO_000300: -2.655e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: -2.221e0

DP
type: SiteQuality
SIO_000300: 5.0545e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.525e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.05352e5

QD
type: SiteQuality
SIO_000300: 2.003e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.72e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.573981415296641e-4
allele num: 2798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 198
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.866e0

DP
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VQSLOD
type: SiteQuality
SIO_000300: -1.895e0

ReadPosRankSum
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SIO_000300: -1.637e0

BaseQRankSum
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SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.856e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 16

GenotypeQuality
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bin: 4.25e1
variant carriers: 6

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 63

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 22

European (Finnish)
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allele count: 2
allele frequency: 5.0e-1
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1306
allele frequency: 4.614840989399293e-1
allele num: 2830
num of homozygotes: 309

Latino
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allele frequency: 5.760869565217391e-1
allele num: 92
num of homozygotes: 18

African
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allele frequency: 4.603960396039604e-1
allele num: 202
num of homozygotes: 22

Other
type: Population
allele count: 57
allele frequency: 4.75e-1
allele num: 120
num of homozygotes: 11

East Asian
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allele count: 67
allele frequency: 4.785714285714286e-1
allele num: 140
num of homozygotes: 19

South Asian
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allele count: 4132
allele frequency: 5.504929389821476e-1
allele num: 7506
num of homozygotes: 1167

FS
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SIO_000300: 1.801e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.776e-1

QD
type: SiteQuality
SIO_000300: 1.802e1

DP
type: SiteQuality
SIO_000300: 5.83727e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2782
num of homozygotes: 0

Other
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allele frequency: 8.333333333333333e-3
allele num: 120
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

DP
type: SiteQuality
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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allele frequency: 1.065814015454303e-3
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European (Non-Finnish)
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allele frequency: 5.759539236861051e-3
allele num: 2778
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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East Asian
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 3.996802557953637e-4
allele num: 7506
num of homozygotes: 0

African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 120
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2772
num of homozygotes: 0

East Asian
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num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 2.127659574468085e-2
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 7482
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VQSLOD
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 1.335470085470086e-4
allele num: 7488
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.335113484646195e-4
allele num: 7490
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.65451e5

ClippingRankSum
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SIO_000300: 5.0e-3

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele frequency: 3.996802557953637e-4
allele num: 7506
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 2722
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African
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Other
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European (Finnish)
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ReadPosRankSum
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SIO_000300: -1.05e-1

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

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

FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

South Asian
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allele count: 18
allele frequency: 1.143728555089592e-3
allele num: 15738
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61630
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 10764
num of homozygotes: 0

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

African
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allele frequency: 5.109339873288372e-4
allele num: 9786
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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FS
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QD
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

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

Latino
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allele frequency: 0.0e0
allele num: 10780
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62058
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7988
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South Asian
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allele frequency: 6.333122229259025e-5
allele num: 15790
num of homozygotes: 0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

BaseQRankSum
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SIO_000300: -2.12e-1

InbreedingCoeff
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SIO_000300: -9.0e-4

DP
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SIO_000300: 1.570829e6

ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

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

African
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allele count: 1
allele frequency: 1.018952516812716e-4
allele num: 9814
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62098
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.151e1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.794e0

VQSLOD
type: SiteQuality
SIO_000300: -1.769e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.682e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.304375236414071e-5
allele num: 15862
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62306
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.808e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 6.870000000000001e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10858
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 876
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62566
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South Asian
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East Asian
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allele frequency: 3.720238095238095e-4
allele num: 8064
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VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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FS
type: SiteQuality
SIO_000300: 1.297e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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African
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MQRankSum
type: SiteQuality
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.21654501216545e-4
allele num: 8220
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 4.622211265869592e-5
allele num: 64904
num of homozygotes: 0

East Asian
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64998
num of homozygotes: 0

Latino
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allele frequency: 8.919015340706386e-5
allele num: 11212
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Latino
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allele frequency: 0.0e0
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Other
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VQSLOD
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MQRankSum
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FS
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.833922261484099e-5
allele num: 11320
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South Asian
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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VQSLOD
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SIO_000300: 2.86e0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.064023834133885e-4
allele num: 65788
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 904
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Latino
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South Asian
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allele num: 16402
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African
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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East Asian
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Latino
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African
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East Asian
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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South Asian
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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East Asian
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African
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VQSLOD
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FS
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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Latino
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East Asian
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European (Non-Finnish)
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allele num: 66554
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1986
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

DP
type: SiteQuality
SIO_000300: 1.760102e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 9.991e0

QD
type: SiteQuality
SIO_000300: 1.088e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.279e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

GenotypeQuality
all individuals: 1614
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8446
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2419
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214181641573579e-4
allele num: 16472
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.76031e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.364e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

FS
type: SiteQuality
SIO_000300: 2.971e0

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.342e1

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

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

GenotypeQuality
all individuals: 2411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38250
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1981
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8448
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 5937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 17
allele frequency: 1.031052886948084e-3
allele num: 16488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.118e1

DP
type: SiteQuality
SIO_000300: 1.764455e6

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.133e0

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

GenotypeQuality
all individuals: 5928
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8441
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
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: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

FS
type: SiteQuality
SIO_000300: 8.297000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.822000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

DP
type: SiteQuality
SIO_000300: 1.764395e6