7-130002258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002258
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002258
    reference: chr 7
allele count: 1
allele frequency: 8.504269143109841e-6
allele num: 117588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.535-21G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.535-21G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.535-21G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.535-21G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.535-21G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.757-21G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.535-21G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.535-21G>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13213
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5104
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

7-130002259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002259
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002259
    reference: chr 7
allele count: 1
allele frequency: 8.486803021301875e-6
allele num: 117830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.535-20G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.535-20G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.535-20G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.757-20G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.535-20G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.535-20G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.535-20G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.535-20G>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

7-130002259-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002259
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002259
    reference: chr 7
allele count: 1
allele frequency: 8.486803021301875e-6
allele num: 117830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.535-20G>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.535-20G>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.535-20G>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.535-20G>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.535-20G>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.535-20G>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.535-20G>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.757-20G>T
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-130002261-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002261
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002261
    reference: chr 7
allele count: 1
allele frequency: 8.464390309965973e-6
allele num: 118142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.535-18C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.535-18C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.535-18C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.535-18C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.535-18C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.535-18C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.757-18C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.535-18C>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5175
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

7-130002263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002263
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002263
    reference: chr 7
allele count: 3
allele frequency: 2.529638936202506e-5
allele num: 118594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.535-16C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.535-16C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.535-16C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.757-16C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.535-16C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.535-16C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.535-16C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.535-16C>T
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

7-130002268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002268
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002268
    reference: chr 7
allele count: 4
allele frequency: 3.343083994985374e-5
allele num: 119650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.535-11C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.535-11C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.535-11C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.535-11C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.535-11C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.535-11C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.535-11C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.757-11C>T
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

7-130002270-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002270
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002270
    reference: chr 7
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.535-9T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.535-9T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.535-9T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.535-9T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.535-9T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.535-9T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.535-9T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.757-9T>C
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

7-130002283-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002283
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002283
    reference: chr 7
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.539G>T
  hgvsp: ENSP00000347549.3:p.Ser180Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.539G>T
  hgvsp: ENSP00000393045.2:p.Ser180Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.539G>T
  hgvsp: ENSP00000419025.2:p.Ser180Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.761G>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.539G>T
  hgvsp: ENSP00000376907.3:p.Ser180Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.539G>T
  hgvsp: ENSP00000420237.1:p.Ser180Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.539G>T
  hgvsp: ENSP00000418183.1:p.Ser180Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.539G>T
  hgvsp: ENSP00000417314.1:p.Ser180Ile
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5396
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8456
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser180Ile
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

7-130002297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002297
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002297
    reference: chr 7
allele count: 2
allele frequency: 1.650573574317075e-5
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.553C>T
  hgvsp: ENSP00000417314.1:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.553C>T
  hgvsp: ENSP00000418183.1:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.553C>T
  hgvsp: ENSP00000347549.3:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.553C>T
  hgvsp: ENSP00000393045.2:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.553C>T
  hgvsp: ENSP00000420237.1:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.775C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.553C>T
  hgvsp: ENSP00000419025.2:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.553C>T
  hgvsp: ENSP00000376907.3:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14571
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg185Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

7-130002298-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002298
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002298
    reference: chr 7
allele count: 6
allele frequency: 4.951475539710834e-5
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.554G>A
  hgvsp: ENSP00000347549.3:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.554G>A
  hgvsp: ENSP00000417314.1:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.554G>A
  hgvsp: ENSP00000418183.1:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.554G>A
  hgvsp: ENSP00000376907.3:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.554G>A
  hgvsp: ENSP00000420237.1:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.776G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.554G>A
  hgvsp: ENSP00000393045.2:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.554G>A
  hgvsp: ENSP00000419025.2:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31618
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg185Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

7-130002299-GCACCCAGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002299
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002291
    reference: chr 7
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.780_787delCCCAGCCA
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.558_565delCCCAGCCA
  hgvsp: ENSP00000417314.1:p.Pro187LeufsTer3
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.558_565delCCCAGCCA
  hgvsp: ENSP00000393045.2:p.Pro187LeufsTer3
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.558_565delCCCAGCCA
  hgvsp: ENSP00000419025.2:p.Pro187LeufsTer3
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.558_565delCCCAGCCA
  hgvsp: ENSP00000376907.3:p.Pro187LeufsTer3
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.558_565delCCCAGCCA
  hgvsp: ENSP00000418183.1:p.Pro187LeufsTer3
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.558_565delCCCAGCCA
  hgvsp: ENSP00000420237.1:p.Pro187LeufsTer3
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.558_565delCCCAGCCA
  hgvsp: ENSP00000347549.3:p.Pro187LeufsTer3
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5495
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro187LeufsTer3
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: GCACCCAGC
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/7-130002301-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002301
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002300
    reference: chr 7
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.560delC
  hgvsp: ENSP00000393045.2:p.Pro187GlnfsTer37
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.560delC
  hgvsp: ENSP00000417314.1:p.Pro187GlnfsTer37
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.560delC
  hgvsp: ENSP00000376907.3:p.Pro187GlnfsTer37
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.560delC
  hgvsp: ENSP00000419025.2:p.Pro187GlnfsTer37
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.560delC
  hgvsp: ENSP00000347549.3:p.Pro187GlnfsTer37
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.560delC
  hgvsp: ENSP00000418183.1:p.Pro187GlnfsTer37
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.782delC
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.560delC
  hgvsp: ENSP00000420237.1:p.Pro187GlnfsTer37
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro187GlnfsTer37
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: AC
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

7-130002307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002307
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002307
    reference: chr 7
allele count: 8
allele frequency: 6.598482349059716e-5
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.563C>T
  hgvsp: ENSP00000393045.2:p.Ala188Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.563C>T
  hgvsp: ENSP00000420237.1:p.Ala188Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.563C>T
  hgvsp: ENSP00000418183.1:p.Ala188Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.563C>T
  hgvsp: ENSP00000376907.3:p.Ala188Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.563C>T
  hgvsp: ENSP00000347549.3:p.Ala188Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.563C>T
  hgvsp: ENSP00000419025.2:p.Ala188Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.563C>T
  hgvsp: ENSP00000417314.1:p.Ala188Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.785C>T
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala188Val
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

7-130002317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002317
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002317
    reference: chr 7
allele count: 99248
allele frequency: 8.17730905495592e-1
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.573T>C
  hgvsp: ENST00000485477.1:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.573T>C
  hgvsp: ENST00000474905.1:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.573T>C
  hgvsp: ENST00000431780.2:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.573T>C
  hgvsp: ENST00000466363.2:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.573T>C
  hgvsp: ENST00000355388.3:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.795T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.573T>C
  hgvsp: ENST00000393213.3:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.573T>C
  hgvsp: ENST00000461828.1:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.25e1
  variant carriers: 368
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 9.75e1
  variant carriers: 13583
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.75e1
  variant carriers: 677
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 1656
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.75e1
  variant carriers: 2751
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 9.25e1
  variant carriers: 3033
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 7.75e1
  variant carriers: 4155
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.25e1
  variant carriers: 2235
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 1118
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 5.25e1
  variant carriers: 3405
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 5.75e1
  variant carriers: 4043
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 6.25e1
  variant carriers: 4417
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 6.75e1
  variant carriers: 4382
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 8.25e1
  variant carriers: 3805
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 7.25e1
  variant carriers: 4395
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 8.75e1
  variant carriers: 3485
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 6.75e1
  variant carriers: 123
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 66
hgvs: p.Ile191Ile
num of homozygotes: 41522
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

7-130002318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002318
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002318
    reference: chr 7
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.574G>A
  hgvsp: ENSP00000418183.1:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.574G>A
  hgvsp: ENSP00000419025.2:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.796G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.574G>A
  hgvsp: ENSP00000376907.3:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.574G>A
  hgvsp: ENSP00000420237.1:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.574G>A
  hgvsp: ENSP00000393045.2:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.574G>A
  hgvsp: ENSP00000417314.1:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.574G>A
  hgvsp: ENSP00000347549.3:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10645
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp192Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/7-130002322-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002322
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002322
    reference: chr 7
allele count: 10
allele frequency: 8.24973600844773e-5
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.578C>A
  hgvsp: ENSP00000376907.3:p.Thr193Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.578C>A
  hgvsp: ENSP00000419025.2:p.Thr193Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.578C>A
  hgvsp: ENSP00000393045.2:p.Thr193Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.578C>A
  hgvsp: ENSP00000417314.1:p.Thr193Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.578C>A
  hgvsp: ENSP00000418183.1:p.Thr193Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.578C>A
  hgvsp: ENSP00000347549.3:p.Thr193Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.578C>A
  hgvsp: ENSP00000420237.1:p.Thr193Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.800C>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29423
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr193Asn
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP

7-130002336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002336
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002336
    reference: chr 7
allele count: 3
allele frequency: 2.476882430647292e-5
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.592C>T
  hgvsp: ENSP00000393045.2:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.592C>T
  hgvsp: ENSP00000376907.3:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.592C>T
  hgvsp: ENSP00000418183.1:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.592C>T
  hgvsp: ENSP00000420237.1:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.592C>T
  hgvsp: ENSP00000419025.2:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.592C>T
  hgvsp: ENSP00000417314.1:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.814C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.592C>T
  hgvsp: ENSP00000347549.3:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15509
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg198Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

7-130002337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002337
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002337
    reference: chr 7
allele count: 2
allele frequency: 1.65128222064433e-5
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.815G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.593G>A
  hgvsp: ENSP00000420237.1:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.593G>A
  hgvsp: ENSP00000418183.1:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.593G>A
  hgvsp: ENSP00000393045.2:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.593G>A
  hgvsp: ENSP00000417314.1:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.593G>A
  hgvsp: ENSP00000347549.3:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.593G>A
  hgvsp: ENSP00000376907.3:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.593G>A
  hgvsp: ENSP00000419025.2:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg198Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-130002339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002339
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002339
    reference: chr 7
allele count: 2
allele frequency: 1.651500388102591e-5
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.595G>A
  hgvsp: ENSP00000419025.2:p.Glu199Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.595G>A
  hgvsp: ENSP00000376907.3:p.Glu199Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.595G>A
  hgvsp: ENSP00000420237.1:p.Glu199Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.595G>A
  hgvsp: ENSP00000347549.3:p.Glu199Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.595G>A
  hgvsp: ENSP00000418183.1:p.Glu199Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.817G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.595G>A
  hgvsp: ENSP00000393045.2:p.Glu199Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.595G>A
  hgvsp: ENSP00000417314.1:p.Glu199Lys
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu199Lys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

7-130002341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002341
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002341
    reference: chr 7
allele count: 2
allele frequency: 1.652018766933192e-5
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.597G>A
  hgvsp: ENST00000355388.3:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.597G>A
  hgvsp: ENST00000431780.2:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.597G>A
  hgvsp: ENST00000466363.2:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.597G>A
  hgvsp: ENST00000474905.1:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.597G>A
  hgvsp: ENST00000461828.1:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.819G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.597G>A
  hgvsp: ENST00000485477.1:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.597G>A
  hgvsp: ENST00000393213.3:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu199Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-130002344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002344
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002344
    reference: chr 7
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.600G>A
  hgvsp: ENSP00000376907.3:p.Trp200Ter
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.822G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.600G>A
  hgvsp: ENSP00000393045.2:p.Trp200Ter
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.600G>A
  hgvsp: ENSP00000420237.1:p.Trp200Ter
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.600G>A
  hgvsp: ENSP00000419025.2:p.Trp200Ter
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.600G>A
  hgvsp: ENSP00000418183.1:p.Trp200Ter
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.600G>A
  hgvsp: ENSP00000417314.1:p.Trp200Ter
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.600G>A
  hgvsp: ENSP00000347549.3:p.Trp200Ter
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp200Ter
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

7-130002359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002359
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002359
    reference: chr 7
allele count: 3
allele frequency: 2.484842460987973e-5
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.615C>T
  hgvsp: ENST00000474905.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.615C>T
  hgvsp: ENST00000485477.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.837C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.615C>T
  hgvsp: ENST00000431780.2:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.615C>T
  hgvsp: ENST00000461828.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.615C>T
  hgvsp: ENST00000393213.3:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.615C>T
  hgvsp: ENST00000466363.2:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.615C>T
  hgvsp: ENST00000355388.3:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28813
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr205Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

7-130002360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002360
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002360
    reference: chr 7
allele count: 10
allele frequency: 8.28349430923941e-5
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.616G>A
  hgvsp: ENSP00000417314.1:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.616G>A
  hgvsp: ENSP00000418183.1:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.616G>A
  hgvsp: ENSP00000347549.3:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.616G>A
  hgvsp: ENSP00000420237.1:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.616G>A
  hgvsp: ENSP00000419025.2:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.616G>A
  hgvsp: ENSP00000393045.2:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.616G>A
  hgvsp: ENSP00000376907.3:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.838G>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly206Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

7-130002362-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002362
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002362
    reference: chr 7
allele count: 2
allele frequency: 1.657467720816137e-5
allele num: 120666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.618C>T
  hgvsp: ENST00000474905.1:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.840C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.618C>T
  hgvsp: ENST00000431780.2:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.618C>T
  hgvsp: ENST00000393213.3:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.618C>T
  hgvsp: ENST00000485477.1:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.618C>T
  hgvsp: ENST00000461828.1:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.618C>T
  hgvsp: ENST00000355388.3:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.618C>T
  hgvsp: ENST00000466363.2:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly206Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-130002363-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002363
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002363
    reference: chr 7
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.841A>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.619A>T
  hgvsp: ENSP00000417314.1:p.Ile207Phe
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.619A>T
  hgvsp: ENSP00000347549.3:p.Ile207Phe
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.619A>T
  hgvsp: ENSP00000418183.1:p.Ile207Phe
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.619A>T
  hgvsp: ENSP00000420237.1:p.Ile207Phe
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.619A>T
  hgvsp: ENSP00000376907.3:p.Ile207Phe
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.619A>T
  hgvsp: ENSP00000393045.2:p.Ile207Phe
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.619A>T
  hgvsp: ENSP00000419025.2:p.Ile207Phe
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile207Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

7-130002372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002372
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002372
    reference: chr 7
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.628G>A
  hgvsp: ENSP00000347549.3:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.628G>A
  hgvsp: ENSP00000393045.2:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.628G>A
  hgvsp: ENSP00000420237.1:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.628G>A
  hgvsp: ENSP00000417314.1:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.850G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.628G>A
  hgvsp: ENSP00000418183.1:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.628G>A
  hgvsp: ENSP00000376907.3:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.628G>A
  hgvsp: ENSP00000419025.2:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala210Thr
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: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

7-130002372-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002372
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002372
    reference: chr 7
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.628G>T
  hgvsp: ENSP00000376907.3:p.Ala210Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.628G>T
  hgvsp: ENSP00000418183.1:p.Ala210Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.850G>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.628G>T
  hgvsp: ENSP00000347549.3:p.Ala210Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.628G>T
  hgvsp: ENSP00000393045.2:p.Ala210Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.628G>T
  hgvsp: ENSP00000420237.1:p.Ala210Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.628G>T
  hgvsp: ENSP00000417314.1:p.Ala210Ser
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.628G>T
  hgvsp: ENSP00000419025.2:p.Ala210Ser
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala210Ser
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/7-130002383-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002383
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002383
    reference: chr 7
allele count: 4
allele frequency: 3.336113427856547e-5
allele num: 119900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+3C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+3C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+3C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+3C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+3C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+3C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+3C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+3C>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 9.75e1
  variant carriers: 4
hgvs: c.636+3C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

7-130002385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002385
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002385
    reference: chr 7
allele count: 1
allele frequency: 8.347106058329577e-6
allele num: 119802
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+5G>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
hgvs: c.636+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

7-130002407-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002407
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002407
    reference: chr 7
allele count: 25
allele frequency: 2.109028328468508e-4
allele num: 118538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+27C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+27C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+27C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+27C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+27C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+27C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+27C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+27C>G
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22790
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-130002407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002407
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002407
    reference: chr 7
allele count: 2
allele frequency: 1.687222662774806e-5
allele num: 118538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+27C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+27C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+27C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+27C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+27C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+27C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+27C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+27C>T
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22790
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

7-130002411-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002411
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002411
    reference: chr 7
allele count: 1
allele frequency: 8.456945689494782e-6
allele num: 118246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+31C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+31C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+31C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+31C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+31C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+31C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+31C>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+31C>G
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21156
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26975
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-130002413-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002413
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002413
    reference: chr 7
allele count: 1
allele frequency: 8.468834688346883e-6
allele num: 118080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+33C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+33C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+33C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+33C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+33C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+33C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+33C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+33C>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

7-130002413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002413
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002413
    reference: chr 7
allele count: 16
allele frequency: 1.355013550135501e-4
allele num: 118080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+33C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+33C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+33C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+33C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+33C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+33C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+33C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+33C>T
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20193
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-130002414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002414
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002414
    reference: chr 7
allele count: 3
allele frequency: 2.542459066409031e-5
allele num: 117996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+34G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+34G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+34G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+34G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+34G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+34G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+34G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+34G>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

7-130002414-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002414
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002414
    reference: chr 7
allele count: 3
allele frequency: 2.542459066409031e-5
allele num: 117996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+34G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+34G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+34G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+34G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+34G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+34G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+34G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+34G>C
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7326
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

7-130002416-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002416
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002416
    reference: chr 7
allele count: 1
allele frequency: 8.472852979055108e-6
allele num: 118024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+36T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+36T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+36T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+36T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+36T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+36T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+36T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+36T>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-130002419-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002419
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002419
    reference: chr 7
allele count: 4
allele frequency: 3.398643941067514e-5
allele num: 117694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+39G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+39G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+39G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+39G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+39G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+39G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+39G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+39G>C
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9447
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS

7-130002420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002420
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002420
    reference: chr 7
allele count: 2
allele frequency: 1.70590242238144e-5
allele num: 117240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+40G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+40G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+40G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+40G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+40G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+40G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+40G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+40G>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

7-130002421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002421
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002421
    reference: chr 7
allele count: 44
allele frequency: 3.752601234946952e-4
allele num: 117252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+41G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+41G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+41G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+41G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+41G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+41G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+41G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+41G>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14295
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14660
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17073
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-130002425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002425
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002425
    reference: chr 7
allele count: 1
allele frequency: 8.619352169490942e-6
allele num: 116018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+45C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+45C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+45C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+45C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+45C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+45C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+45C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+45C>T
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14488
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7082
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5674
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-130002426-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002426
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002426
    reference: chr 7
allele count: 3
allele frequency: 2.581089219650693e-5
allele num: 116230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+46A>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+46A>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+46A>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+46A>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+46A>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+46A>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+46A>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+46A>C
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14447
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7078
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5702
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

7-130002427-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002427
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002427
    reference: chr 7
allele count: 1
allele frequency: 8.604667171473808e-6
allele num: 116216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+47A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+47A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+47A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+47A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+47A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+47A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+47A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+47A>G
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7078
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-130002429-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002429
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002430
    reference: chr 7
allele count: 11
allele frequency: 9.525458953931417e-5
allele num: 115480
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.636+54dupG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.636+54dupG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.636+54dupG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.858+54dupG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.636+54dupG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.636+54dupG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.636+54dupG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.636+54dupG
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

7-130002679-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002679
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002679
    reference: chr 7
allele count: 1
allele frequency: 9.126585744273067e-6
allele num: 109570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.637-46A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.637-46A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.637-46A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.637-46A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.637-46A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.637-46A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.859-46A>G
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.637-46A>G
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15697
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7082
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

7-130002697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002697
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002697
    reference: chr 7
allele count: 1
allele frequency: 8.88083693007229e-6
allele num: 112602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.637-28T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.637-28T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.637-28T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.637-28T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.859-28T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.637-28T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.637-28T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.637-28T>C
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10280
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-130002713-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002713
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002713
    reference: chr 7
allele count: 1
allele frequency: 8.558419773373044e-6
allele num: 116844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.637-12T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.637-12T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.637-12T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.859-12T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.637-12T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.637-12T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.637-12T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.637-12T>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

7-130002717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002717
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002717
    reference: chr 7
allele count: 31
allele frequency: 2.635651005798432e-4
allele num: 117618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.637-8T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.637-8T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.637-8T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.859-8T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.637-8T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.637-8T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.637-8T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.637-8T>C
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37516
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.75e1
  variant carriers: 31
hgvs: c.637-8T>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

7-130002728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002728
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002728
    reference: chr 7
allele count: 15
allele frequency: 1.256007904476412e-4
allele num: 119426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.862G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.640G>A
  hgvsp: ENSP00000376907.3:p.Val214Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.640G>A
  hgvsp: ENSP00000419025.2:p.Val214Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.640G>A
  hgvsp: ENSP00000347549.3:p.Val214Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.640G>A
  hgvsp: ENSP00000393045.2:p.Val214Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.640G>A
  hgvsp: ENSP00000420237.1:p.Val214Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.640G>A
  hgvsp: ENSP00000418183.1:p.Val214Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.640G>A
  hgvsp: ENSP00000417314.1:p.Val214Ile
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39293
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14978
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val214Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

7-130002729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002729
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002729
    reference: chr 7
allele count: 2
allele frequency: 1.673276107290464e-5
allele num: 119526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.641T>C
  hgvsp: ENSP00000419025.2:p.Val214Ala
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.863T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.641T>C
  hgvsp: ENSP00000417314.1:p.Val214Ala
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.641T>C
  hgvsp: ENSP00000376907.3:p.Val214Ala
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.641T>C
  hgvsp: ENSP00000420237.1:p.Val214Ala
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.641T>C
  hgvsp: ENSP00000393045.2:p.Val214Ala
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.641T>C
  hgvsp: ENSP00000347549.3:p.Val214Ala
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.641T>C
  hgvsp: ENSP00000418183.1:p.Val214Ala
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15032
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val214Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-130002732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002732
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002732
    reference: chr 7
allele count: 59
allele frequency: 4.922327343111245e-4
allele num: 119862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.644G>A
  hgvsp: ENSP00000393045.2:p.Ser215Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.644G>A
  hgvsp: ENSP00000417314.1:p.Ser215Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.644G>A
  hgvsp: ENSP00000419025.2:p.Ser215Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.644G>A
  hgvsp: ENSP00000418183.1:p.Ser215Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.644G>A
  hgvsp: ENSP00000376907.3:p.Ser215Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.866G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.644G>A
  hgvsp: ENSP00000347549.3:p.Ser215Asn
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.644G>A
  hgvsp: ENSP00000420237.1:p.Ser215Asn
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39599
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15226
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser215Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

7-130002739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002739
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002739
    reference: chr 7
allele count: 2
allele frequency: 1.661654010401954e-5
allele num: 120362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.651T>C
  hgvsp: ENST00000431780.2:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.873T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.651T>C
  hgvsp: ENST00000461828.1:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.651T>C
  hgvsp: ENST00000466363.2:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.651T>C
  hgvsp: ENST00000474905.1:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.651T>C
  hgvsp: ENST00000393213.3:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.651T>C
  hgvsp: ENST00000355388.3:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.651T>C
  hgvsp: ENST00000485477.1:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr217Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

7-130002749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002749
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002749
    reference: chr 7
allele count: 3
allele frequency: 2.484760137821362e-5
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.661C>T
  hgvsp: ENSP00000418183.1:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.661C>T
  hgvsp: ENSP00000417314.1:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.661C>T
  hgvsp: ENSP00000393045.2:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.661C>T
  hgvsp: ENSP00000347549.3:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.883C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.661C>T
  hgvsp: ENSP00000420237.1:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.661C>T
  hgvsp: ENSP00000376907.3:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.661C>T
  hgvsp: ENSP00000419025.2:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg221Cys
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: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

7-130002760-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002760
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002760
    reference: chr 7
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.672A>T
  hgvsp: ENST00000355388.3:c.672A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.672A>T
  hgvsp: ENST00000466363.2:c.672A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.894A>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.672A>T
  hgvsp: ENST00000431780.2:c.672A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.672A>T
  hgvsp: ENST00000474905.1:c.672A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.672A>T
  hgvsp: ENST00000461828.1:c.672A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.672A>T
  hgvsp: ENST00000393213.3:c.672A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.672A>T
  hgvsp: ENST00000485477.1:c.672A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr224Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

7-130002789-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002789
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002789
    reference: chr 7
allele count: 4
allele frequency: 3.310436149962758e-5
allele num: 120830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.923T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.701T>C
  hgvsp: ENSP00000376907.3:p.Ile234Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.701T>C
  hgvsp: ENSP00000420237.1:p.Ile234Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.701T>C
  hgvsp: ENSP00000417314.1:p.Ile234Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.701T>C
  hgvsp: ENSP00000418183.1:p.Ile234Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.701T>C
  hgvsp: ENSP00000393045.2:p.Ile234Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.701T>C
  hgvsp: ENSP00000419025.2:p.Ile234Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.701T>C
  hgvsp: ENSP00000347549.3:p.Ile234Thr
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile234Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

7-130002796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002796
    reference: chr 7
allele count: 3
allele frequency: 2.485171808211008e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.708C>T
  hgvsp: ENST00000474905.1:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.708C>T
  hgvsp: ENST00000431780.2:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.708C>T
  hgvsp: ENST00000466363.2:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.708C>T
  hgvsp: ENST00000393213.3:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.708C>T
  hgvsp: ENST00000485477.1:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.708C>T
  hgvsp: ENST00000461828.1:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.708C>T
  hgvsp: ENST00000355388.3:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.930C>T
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu236Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

7-130002797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002797
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002797
    reference: chr 7
allele count: 145
allele frequency: 1.201206176685002e-3
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.709G>A
  hgvsp: ENSP00000393045.2:p.Val237Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.709G>A
  hgvsp: ENSP00000418183.1:p.Val237Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.709G>A
  hgvsp: ENSP00000376907.3:p.Val237Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.931G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.709G>A
  hgvsp: ENSP00000419025.2:p.Val237Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.709G>A
  hgvsp: ENSP00000420237.1:p.Val237Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.709G>A
  hgvsp: ENSP00000417314.1:p.Val237Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.709G>A
  hgvsp: ENSP00000347549.3:p.Val237Ile
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16094
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 39278
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51305
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val237Ile
num of homozygotes: 3
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-130002801-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002801
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002800
    reference: chr 7
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.716delA
  hgvsp: ENSP00000376907.3:p.Asn239ThrfsTer11
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.716delA
  hgvsp: ENSP00000419025.2:p.Asn239ThrfsTer11
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.716delA
  hgvsp: ENSP00000347549.3:p.Asn239ThrfsTer11
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.938delA
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.716delA
  hgvsp: ENSP00000417314.1:p.Asn239ThrfsTer11
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.716delA
  hgvsp: ENSP00000420237.1:p.Asn239ThrfsTer11
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.716delA
  hgvsp: ENSP00000418183.1:p.Asn239ThrfsTer11
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.716delA
  hgvsp: ENSP00000393045.2:p.Asn239ThrfsTer11
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16202
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn239ThrfsTer11
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: CA
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-130002806-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002806
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002806
    reference: chr 7
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.718C>A
  hgvsp: ENSP00000393045.2:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.718C>A
  hgvsp: ENSP00000347549.3:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.718C>A
  hgvsp: ENSP00000420237.1:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.940C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.718C>A
  hgvsp: ENSP00000376907.3:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.718C>A
  hgvsp: ENSP00000419025.2:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.718C>A
  hgvsp: ENSP00000417314.1:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.718C>A
  hgvsp: ENSP00000418183.1:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro240Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-130002809-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002809
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002809
    reference: chr 7
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.943G>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.721G>C
  hgvsp: ENSP00000417314.1:p.Asp241His
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.721G>C
  hgvsp: ENSP00000418183.1:p.Asp241His
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.721G>C
  hgvsp: ENSP00000420237.1:p.Asp241His
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.721G>C
  hgvsp: ENSP00000376907.3:p.Asp241His
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.721G>C
  hgvsp: ENSP00000419025.2:p.Asp241His
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.721G>C
  hgvsp: ENSP00000393045.2:p.Asp241His
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.721G>C
  hgvsp: ENSP00000347549.3:p.Asp241His
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp241His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

7-130002810-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002810
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002810
    reference: chr 7
allele count: 2
allele frequency: 1.662178783950002e-5
allele num: 120324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.722A>T
  hgvsp: ENSP00000417314.1:p.Asp241Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.722A>T
  hgvsp: ENSP00000420237.1:p.Asp241Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.944A>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.722A>T
  hgvsp: ENSP00000376907.3:p.Asp241Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.722A>T
  hgvsp: ENSP00000393045.2:p.Asp241Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.722A>T
  hgvsp: ENSP00000418183.1:p.Asp241Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.722A>T
  hgvsp: ENSP00000419025.2:p.Asp241Val
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.722A>T
  hgvsp: ENSP00000347549.3:p.Asp241Val
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38814
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4803
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp241Val
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: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

7-130002814-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002814
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002814
    reference: chr 7
allele count: 2
allele frequency: 1.664946222237022e-5
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.726G>T
  hgvsp: ENST00000474905.1:c.726G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.726G>T
  hgvsp: ENST00000393213.3:c.726G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.726G>T
  hgvsp: ENST00000431780.2:c.726G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.726G>T
  hgvsp: ENST00000355388.3:c.726G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.726G>T
  hgvsp: ENST00000461828.1:c.726G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.948G>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.726G>T
  hgvsp: ENST00000466363.2:c.726G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.726G>T
  hgvsp: ENST00000485477.1:c.726G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly242Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

7-130002819-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002819
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002820
    reference: chr 7
allele count: 2
allele frequency: 1.669755714738934e-5
allele num: 119778
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.735dupT
  hgvsp: ENSP00000376907.3:p.Thr246TyrfsTer39
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.735dupT
  hgvsp: ENSP00000419025.2:p.Thr246TyrfsTer39
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.735dupT
  hgvsp: ENSP00000418183.1:p.Thr246TyrfsTer39
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.735dupT
  hgvsp: ENSP00000393045.2:p.Thr246TyrfsTer39
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.735dupT
  hgvsp: ENSP00000347549.3:p.Thr246TyrfsTer39
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.735dupT
  hgvsp: ENSP00000417314.1:p.Thr246TyrfsTer39
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.957dupT
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.735dupT
  hgvsp: ENSP00000420237.1:p.Thr246TyrfsTer39
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16068
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr246TyrfsTer39
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

7-130002820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002820
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002820
    reference: chr 7
allele count: 1
allele frequency: 8.349615082744685e-6
allele num: 119766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.732T>C
  hgvsp: ENST00000355388.3:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.732T>C
  hgvsp: ENST00000431780.2:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.732T>C
  hgvsp: ENST00000393213.3:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.732T>C
  hgvsp: ENST00000466363.2:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.954T>C
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.732T>C
  hgvsp: ENST00000485477.1:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.732T>C
  hgvsp: ENST00000474905.1:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.732T>C
  hgvsp: ENST00000461828.1:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala244Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-130002827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002827
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002827
    reference: chr 7
allele count: 1
allele frequency: 8.39278220730172e-6
allele num: 119150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.739C>T
  hgvsp: ENSP00000417314.1:p.His247Tyr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.739C>T
  hgvsp: ENSP00000419025.2:p.His247Tyr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.739C>T
  hgvsp: ENSP00000376907.3:p.His247Tyr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.739C>T
  hgvsp: ENSP00000420237.1:p.His247Tyr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.739C>T
  hgvsp: ENSP00000347549.3:p.His247Tyr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.961C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.739C>T
  hgvsp: ENSP00000393045.2:p.His247Tyr
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.739C>T
  hgvsp: ENSP00000418183.1:p.His247Tyr
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His247Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-130002829-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002829
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002829
    reference: chr 7
allele count: 2
allele frequency: 1.681548369738856e-5
allele num: 118938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.741C>A
  hgvsp: ENSP00000418183.1:p.His247Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.741C>A
  hgvsp: ENSP00000376907.3:p.His247Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.741C>A
  hgvsp: ENSP00000347549.3:p.His247Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.741C>A
  hgvsp: ENSP00000393045.2:p.His247Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.741C>A
  hgvsp: ENSP00000419025.2:p.His247Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.741C>A
  hgvsp: ENSP00000417314.1:p.His247Gln
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.963C>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.741C>A
  hgvsp: ENSP00000420237.1:p.His247Gln
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48379
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His247Gln
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

7-130002829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002829
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002829
    reference: chr 7
allele count: 1
allele frequency: 8.407741848694278e-6
allele num: 118938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.741C>T
  hgvsp: ENST00000466363.2:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.741C>T
  hgvsp: ENST00000393213.3:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.963C>T
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.741C>T
  hgvsp: ENST00000355388.3:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.741C>T
  hgvsp: ENST00000474905.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.741C>T
  hgvsp: ENST00000485477.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.741C>T
  hgvsp: ENST00000431780.2:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.741C>T
  hgvsp: ENST00000461828.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His247His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

7-130002831-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002831
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002831
    reference: chr 7
allele count: 4
allele frequency: 3.372908796546141e-5
allele num: 118592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.743G>T
  hgvsp: ENSP00000417314.1:p.Ser248Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.743G>T
  hgvsp: ENSP00000418183.1:p.Ser248Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.743G>T
  hgvsp: ENSP00000419025.2:p.Ser248Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.743G>T
  hgvsp: ENSP00000347549.3:p.Ser248Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.743G>T
  hgvsp: ENSP00000376907.3:p.Ser248Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.743G>T
  hgvsp: ENSP00000393045.2:p.Ser248Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.743G>T
  hgvsp: ENSP00000420237.1:p.Ser248Ile
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.965G>T
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35957
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser248Ile
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

7-130002834-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002834
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002834
    reference: chr 7
allele count: 1
allele frequency: 8.452370890034655e-6
allele num: 118310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.746T>A
  hgvsp: ENSP00000393045.2:p.Met249Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.746T>A
  hgvsp: ENSP00000347549.3:p.Met249Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.746T>A
  hgvsp: ENSP00000418183.1:p.Met249Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.746T>A
  hgvsp: ENSP00000420237.1:p.Met249Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.746T>A
  hgvsp: ENSP00000376907.3:p.Met249Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.746T>A
  hgvsp: ENSP00000417314.1:p.Met249Lys
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.968T>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.746T>A
  hgvsp: ENSP00000419025.2:p.Met249Lys
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met249Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

7-130002840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002840
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002840
    reference: chr 7
allele count: 1
allele frequency: 8.556515786771626e-6
allele num: 116870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.747+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.747+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.747+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.969+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.747+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.747+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.747+5G>A
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.747+5G>A
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42539
  bin: 6.25e1
  variant carriers: 0
hgvs: c.747+5G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

7-130002847-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130002847
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 130002846
    reference: chr 7
allele count: 2
allele frequency: 1.728638351570468e-5
allele num: 115698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl transcript: ENST00000495736
  gene symbol: CPA5
  hgvsc: ENST00000495736.1:n.969+15delG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000417314
  ensembl transcript: ENST00000474905
  gene symbol: CPA5
  hgvsc: ENST00000474905.1:c.747+15delG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000347549
  ensembl transcript: ENST00000355388
  gene symbol: CPA5
  hgvsc: ENST00000355388.3:c.747+15delG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000393045
  ensembl transcript: ENST00000431780
  gene symbol: CPA5
  hgvsc: ENST00000431780.2:c.747+15delG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000418183
  ensembl transcript: ENST00000461828
  gene symbol: CPA5
  hgvsc: ENST00000461828.1:c.747+15delG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000376907
  ensembl transcript: ENST00000393213
  gene symbol: CPA5
  hgvsc: ENST00000393213.3:c.747+15delG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000419025
  ensembl transcript: ENST00000466363
  gene symbol: CPA5
  hgvsc: ENST00000466363.2:c.747+15delG
  variant of: http://identifiers.org/hgnc/15722
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158525
  ensembl protein: ENSP00000420237
  ensembl transcript: ENST00000485477
  gene symbol: CPA5
  hgvsc: ENST00000485477.1:c.747+15delG
  variant of: http://identifiers.org/hgnc/15722
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28862
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: TG

GenotypeQuality
all individuals: 247
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65246
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.78334011667345e-5
allele num: 14742
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 5.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.251e0

VQSLOD
type: SiteQuality
SIO_000300: -1.909e0

DP
type: SiteQuality
SIO_000300: 1.564284e6

GenotypeQuality
all individuals: 589
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5133
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28403
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530081400330498e-5
allele num: 65356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.843e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.569359e6

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
all individuals: 3174
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5133
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.809691975671964e-5
allele num: 10194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.569359e6

QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 3.843e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4565
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14948
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65500
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

FS
type: SiteQuality
SIO_000300: 8.496e0

VQSLOD
type: SiteQuality
SIO_000300: -1.581e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.966e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.580426e6

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8015
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522301720200944e-5
allele num: 65690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15156
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.743679163034002e-4
allele num: 11470
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.093e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 1.592637e6

FS
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 2.301e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

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

GenotypeQuality
all individuals: 261
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5331
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4798
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15662
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.626416840157298e-4
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.861e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.618e0

DP
type: SiteQuality
SIO_000300: 1.612843e6

QD
type: SiteQuality
SIO_000300: 1.155e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
all individuals: 2024
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 152
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1574
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3414
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5348
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511487303506651e-5
allele num: 66160
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.648e0

VQSLOD
type: SiteQuality
SIO_000300: -4.658e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

DP
type: SiteQuality
SIO_000300: 1.616056e6

QD
type: SiteQuality
SIO_000300: 1.289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1599
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3692
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e0

QD
type: SiteQuality
SIO_000300: 1.076e1

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 5.455e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

DP
type: SiteQuality
SIO_000300: 1.632341e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

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

GenotypeQuality
all individuals: 5467
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8508
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30208
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5045
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3737
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.926411096127914e-4
allele num: 10382
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

QD
type: SiteQuality
SIO_000300: 2.503e1

DP
type: SiteQuality
SIO_000300: 1.640136e6

VQSLOD
type: SiteQuality
SIO_000300: -1.687e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5052
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3743
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5489
bin: 9.75e1
variant carriers: 6

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

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

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

East Asian
type: Population
allele count: 5
allele frequency: 5.779010633379565e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.106e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

DP
type: SiteQuality
SIO_000300: 1.640894e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 3.516e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 30184
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8522
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.624e0

DP
type: SiteQuality
SIO_000300: 1.641222e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 4.65e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

GenotypeQuality
all individuals: 3749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5507
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5068
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30162
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.938e1

DP
type: SiteQuality
SIO_000300: 1.641948e6

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

MQ
type: SiteQuality
SIO_000300: 6.03e1

GenotypeQuality
all individuals: 2119
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8540
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5088
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30046
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5539
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.00360144057623e-5
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 1.842e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.73e0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.643923e6

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 267

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 258
bin: 8.25e1
variant carriers: 200

GenotypeQuality
all individuals: 280
bin: 7.75e1
variant carriers: 181

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

GenotypeQuality
all individuals: 2252
bin: 6.25e1
variant carriers: 85

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 17

GenotypeQuality
all individuals: 188
bin: 7.25e1
variant carriers: 83

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 40

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 48

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 26

GenotypeQuality
all individuals: 56524
bin: 9.75e1
variant carriers: 56437

Latino
type: Population
allele count: 10542
allele frequency: 9.106772633033863e-1
allele num: 11576
num of homozygotes: 4801

European (Finnish)
type: Population
allele count: 5592
allele frequency: 8.454792863622619e-1
allele num: 6614
num of homozygotes: 2354

African
type: Population
allele count: 4558
allele frequency: 4.386910490856593e-1
allele num: 10390
num of homozygotes: 1003

East Asian
type: Population
allele count: 8434
allele frequency: 9.745782297203606e-1
allele num: 8654
num of homozygotes: 4112

European (Non-Finnish)
type: Population
allele count: 54822
allele frequency: 8.21697293084325e-1
allele num: 66718
num of homozygotes: 22509

South Asian
type: Population
allele count: 14540
allele frequency: 8.806783767413688e-1
allele num: 16510
num of homozygotes: 6420

Other
type: Population
allele count: 760
allele frequency: 8.370044052863436e-1
allele num: 908
num of homozygotes: 323

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 4.512866e6

QD
type: SiteQuality
SIO_000300: 2.753e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.760000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e0

GenotypeQuality
all individuals: 3032
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.438e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: -1.204e-1

QD
type: SiteQuality
SIO_000300: 1.767e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.283e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 1.763242e6

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3021
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10613
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1854
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37788
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 9.75e1
variant carriers: 10

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
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: 7
allele frequency: 6.74893945237177e-4
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002101471029721e-5
allele num: 66620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

QD
type: SiteQuality
SIO_000300: 1.387e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.469999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.775e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

DP
type: SiteQuality
SIO_000300: 1.76199e6

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

GenotypeQuality
all individuals: 1833
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3412
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1879
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10566
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004627125773691e-5
allele num: 66564
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.109e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.757072e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3002
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 695
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

FS
type: SiteQuality
SIO_000300: 5.359e0

QD
type: SiteQuality
SIO_000300: 1.127e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.755843e6

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

GenotypeQuality
all individuals: 3405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37783
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1825
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.754113e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.985e0

FS
type: SiteQuality
SIO_000300: 2.66e0

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

QD
type: SiteQuality
SIO_000300: 1.752e1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10565
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.934235976789168e-4
allele num: 10340
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.044e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.316e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

DP
type: SiteQuality
SIO_000300: 1.75305e6

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

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

GenotypeQuality
all individuals: 1818
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10534
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

DP
type: SiteQuality
SIO_000300: 1.750645e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.391e0

FS
type: SiteQuality
SIO_000300: 2.357e0

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 222
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2908
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506841058405159e-5
allele num: 66364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218323586744639e-4
allele num: 16416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 1.738e0

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 1.736381e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1778
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 37069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10281
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 811
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.861921431349669e-4
allele num: 10284
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.52106817770812e-5
allele num: 66356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 1.735209e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

QD
type: SiteQuality
SIO_000300: 1.245e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

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

GenotypeQuality
all individuals: 807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3266
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1763
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10267
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

FS
type: SiteQuality
SIO_000300: 4.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.23e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

DP
type: SiteQuality
SIO_000300: 1.732409e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.917e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
all individuals: 3263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 238
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.549e1

DP
type: SiteQuality
SIO_000300: 1.731323e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1753
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 787
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 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: 1.510117789187557e-5
allele num: 66220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.72461e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.182e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.061e1

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 661
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 787
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.72461e6

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9942
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.474022761009402e-4
allele num: 16168
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.700738e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.144e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.846e0

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e-1

FS
type: SiteQuality
SIO_000300: 5.977e0

QD
type: SiteQuality
SIO_000300: 9.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 646
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9856
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517128379403465e-5
allele num: 65914
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.776e0

QD
type: SiteQuality
SIO_000300: 1.327e1

MQRankSum
type: SiteQuality
SIO_000300: -1.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-1

FS
type: SiteQuality
SIO_000300: 1.456e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.694443e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 29273
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4765
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.68422341989221e-4
allele num: 65312
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.50385423966363e-4
allele num: 11416
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.898253606681853e-4
allele num: 15804
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.999999999999999e-4
allele num: 10000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.308e0

DP
type: SiteQuality
SIO_000300: 1.572138e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.395e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2085
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2812
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65312
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.751927119831815e-4
allele num: 11416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15804
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.395e1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

FS
type: SiteQuality
SIO_000300: 1.308e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 1.572138e6

GenotypeQuality
all individuals: 7904
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5341
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65166
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.348400203148806e-5
allele num: 15752
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.533367e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.252e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 2.968e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.987e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

QD
type: SiteQuality
SIO_000300: 5.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.687e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.362e1

DP
type: SiteQuality
SIO_000300: 1.513096e6

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2959
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535673700052213e-5
allele num: 65118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.278281989006775e-4
allele num: 15646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.207243460764587e-3
allele num: 9940
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

QD
type: SiteQuality
SIO_000300: 1.362e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

FS
type: SiteQuality
SIO_000300: 1.687e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.513096e6

GenotypeQuality
all individuals: 1674
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2987
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5813
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7326
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4626
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.275347532202525e-4
allele num: 15682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537420822827624e-5
allele num: 65044
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

FS
type: SiteQuality
SIO_000300: 4.191e0

QD
type: SiteQuality
SIO_000300: 1.355e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 1.486449e6

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

GenotypeQuality
all individuals: 2106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 23475
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 3.027245206861756e-4
allele num: 9910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65044
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 4.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 1.486449e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

QD
type: SiteQuality
SIO_000300: 1.355e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 465
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23297
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3848
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4822
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65058
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.77963125548727e-5
allele num: 11390
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.477576e6

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

QD
type: SiteQuality
SIO_000300: 1.512e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

GenotypeQuality
all individuals: 4724
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 561
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6065
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5468
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.802816901408451e-5
allele num: 11360
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.623921085080148e-5
allele num: 64880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.789e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

DP
type: SiteQuality
SIO_000300: 1.448374e6

QD
type: SiteQuality
SIO_000300: 1.358e1

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.146e0

GenotypeQuality
all individuals: 6093
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5936
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.092241565911129e-5
allele num: 64678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

DP
type: SiteQuality
SIO_000300: 1.412237e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.203e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.497e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 6084
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5842
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 41
allele frequency: 4.184527454582568e-3
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.819897689186806e-5
allele num: 11338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545499505440158e-5
allele num: 64704
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.411027e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.399e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.75e0

GenotypeQuality
all individuals: 552
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5740
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3923
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560500608595237e-5
allele num: 64082
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.412e1

DP
type: SiteQuality
SIO_000300: 1.365398e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.399e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

GenotypeQuality
all individuals: 550
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3671
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11926
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557777985481509e-5
allele num: 64194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.518055012384304e-5
allele num: 15342
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.364326e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.648e1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5689
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2782
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558457750210392e-5
allele num: 64166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15342
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.763e1

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

FS
type: SiteQuality
SIO_000300: 4.472e0

DP
type: SiteQuality
SIO_000300: 1.363828e6

VQSLOD
type: SiteQuality
SIO_000300: -1.845e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 5.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 710
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3848
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 553
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15204
num of homozygotes: 0

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

East Asian
type: Population
allele count: 11
allele frequency: 1.312649164677804e-3
allele num: 8380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.353932e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.033e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

GenotypeQuality
all individuals: 477
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7098
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5653
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15719
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13572
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.446438692612885e-5
allele num: 10586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.101e0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.934e1

DP
type: SiteQuality
SIO_000300: 1.106127e6

GenotypeQuality
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3435
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4470
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32323
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598567683355713e-5
allele num: 62556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14078
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

DP
type: SiteQuality
SIO_000300: 1.248467e6

FS
type: SiteQuality
SIO_000300: 4.892e0

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

GenotypeQuality
all individuals: 45458
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1363
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 819
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.736728644570196e-5
allele num: 14844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.325e0

DP
type: SiteQuality
SIO_000300: 1.38225e6

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.011e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

GenotypeQuality
all individuals: 4394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46981
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 2.762976119992106e-3
allele num: 10134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533648242439114e-5
allele num: 65204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.771793054571226e-4
allele num: 11288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.506e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

DP
type: SiteQuality
SIO_000300: 1.40135e6

VQSLOD
type: SiteQuality
SIO_000300: 5.65e0

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

GenotypeQuality
all individuals: 4657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50023
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.585889570552147e-4
allele num: 15648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.215e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 3.612e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.531e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.438898e6

GenotypeQuality
all individuals: 1117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50105
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.440449e6

VQSLOD
type: SiteQuality
SIO_000300: -2.754e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

FS
type: SiteQuality
SIO_000300: 2.015e1

QD
type: SiteQuality
SIO_000300: 1.199e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4724
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 9.75e1
variant carriers: 58

GenotypeQuality
all individuals: 250
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50618
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

African
type: Population
allele count: 58
allele frequency: 5.62560620756547e-3
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15838
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.757e0

FS
type: SiteQuality
SIO_000300: 1.263e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

QD
type: SiteQuality
SIO_000300: 1.211e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.447782e6

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

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

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4780
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014408874419726e-5
allele num: 66348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
SIO_000300: 1.174e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.292e1

VQSLOD
type: SiteQuality
SIO_000300: -8.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

DP
type: SiteQuality
SIO_000300: 1.455939e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 255
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4831
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.343e0

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

DP
type: SiteQuality
SIO_000300: 1.462841e6

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51665
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 782
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 282
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4857
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.111e1

DP
type: SiteQuality
SIO_000300: 1.46571e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

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

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51525
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 784
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1030
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116207951070337e-5
allele num: 16350
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: -2.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 1.024e1

FS
type: SiteQuality
SIO_000300: 1.3746e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.46514e6

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

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4828
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51324
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 9.75e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.940240589833139e-4
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

DP
type: SiteQuality
SIO_000300: 1.463753e6

QD
type: SiteQuality
SIO_000300: 1.301e1

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 502
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 880
bin: 9.75e1
variant carriers: 142

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515895953757225e-5
allele num: 66432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

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

African
type: Population
allele count: 137
allele frequency: 1.329580745341615e-2
allele num: 10304
num of homozygotes: 3

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

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

Latino
type: Population
allele count: 5
allele frequency: 4.344803614876608e-4
allele num: 11508
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.27e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

QD
type: SiteQuality
SIO_000300: 1.24e1

DP
type: SiteQuality
SIO_000300: 1.467768e6

GenotypeQuality
all individuals: 584
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4818
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.042e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

MQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.461527e6

QD
type: SiteQuality
SIO_000300: 1.359e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.97e-1

GenotypeQuality
all individuals: 701
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4822
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

FS
type: SiteQuality
SIO_000300: 1.105e0

DP
type: SiteQuality
SIO_000300: 1.459667e6

QD
type: SiteQuality
SIO_000300: 1.081e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.106e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.170554115759595e-5
allele num: 16206
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.811e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 7.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.12e-1

DP
type: SiteQuality
SIO_000300: 1.457507e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 742
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50908
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740341106856944e-4
allele num: 11492
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.456887e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

FS
type: SiteQuality
SIO_000300: 1.386e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

QD
type: SiteQuality
SIO_000300: 2.407e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.512e-1

GenotypeQuality
all individuals: 741
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50644
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4791
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.742160278745645e-4
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.453758e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.89e-1

FS
type: SiteQuality
SIO_000300: 6.151e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 1364
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 985
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 49971
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028651038827306e-5
allele num: 66036
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.048e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.26e-1

FS
type: SiteQuality
SIO_000300: 1.287e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.117e1

DP
type: SiteQuality
SIO_000300: 1.448355e6

GenotypeQuality
all individuals: 4751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 281
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 229
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50086
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.659e0

DP
type: SiteQuality
SIO_000300: 1.448274e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.04e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

FS
type: SiteQuality
SIO_000300: 1.6168e1

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2049
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.850275807722617e-5
allele num: 10152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 1.371e0

DP
type: SiteQuality
SIO_000300: 1.436754e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.351e0

VQSLOD
type: SiteQuality
SIO_000300: -4.309e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.403e0

QD
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 510
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.970831690973591e-4
allele num: 10148
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.431714e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.012e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

FS
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.157e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
all individuals: 455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523368472366096e-5
allele num: 65644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.431714e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 2.91e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.012e0

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.559836170485089e-4
allele num: 15626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.808e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

DP
type: SiteQuality
SIO_000300: 1.424385e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 2.103e0

MQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
all individuals: 839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3066
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.434178355424013e-5
allele num: 15542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

QD
type: SiteQuality
SIO_000300: 1.174e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.143e0

FS
type: SiteQuality
SIO_000300: 7.574e0

VQSLOD
type: SiteQuality
SIO_000300: -1.295e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.417741e6

GenotypeQuality
all individuals: 740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547221190741428e-5
allele num: 64632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 2.648e0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.379345e6

MQ
type: SiteQuality
SIO_000300: 6.0e1