7-29152463-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29152463
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29152463
    reference: chr 7
allele count: 1
allele frequency: 8.388135820695209e-6
allele num: 119216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000409036
  ensembl transcript: ENST00000448959
  gene symbol: CPVL
  hgvsc: ENST00000448959.1:c.-66G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.463-25G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000395690
  ensembl transcript: ENST00000447426
  gene symbol: CPVL
  hgvsc: ENST00000447426.1:c.-41-25G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.170-25G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.170-25G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.170-25G>C
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21875
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
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: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

7-29152467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29152467
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29152467
    reference: chr 7
allele count: 1
allele frequency: 8.391514500537057e-6
allele num: 119168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000409036
  ensembl transcript: ENST00000448959
  gene symbol: CPVL
  hgvsc: ENST00000448959.1:c.-70C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000395690
  ensembl transcript: ENST00000447426
  gene symbol: CPVL
  hgvsc: ENST00000447426.1:c.-41-29C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.170-29C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.463-29C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.170-29C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.170-29C>T
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

7-29152474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29152474
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29152474
    reference: chr 7
allele count: 1
allele frequency: 8.418217021634817e-6
allele num: 118790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.463-36C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000395690
  ensembl transcript: ENST00000447426
  gene symbol: CPVL
  hgvsc: ENST00000447426.1:c.-41-36C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000409036
  ensembl transcript: ENST00000448959
  gene symbol: CPVL
  hgvsc: ENST00000448959.1:c.-77C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.170-36C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.170-36C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.170-36C>T
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

7-29152481-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29152481
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29152481
    reference: chr 7
allele count: 5
allele frequency: 4.229402808323465e-5
allele num: 118220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.170-43T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.170-43T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000409036
  ensembl transcript: ENST00000448959
  gene symbol: CPVL
  hgvsc: ENST00000448959.1:c.-84T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.463-43T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000395690
  ensembl transcript: ENST00000447426
  gene symbol: CPVL
  hgvsc: ENST00000447426.1:c.-41-43T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.170-43T>C
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11068
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-29160460-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160460
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160460
    reference: chr 7
allele count: 1
allele frequency: 8.516291665956975e-6
allele num: 117422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.169+49T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.169+49T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.169+49T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.462+49T>G
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5842
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-29160461-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160461
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160461
    reference: chr 7
allele count: 1
allele frequency: 8.666412451901412e-6
allele num: 115388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.169+48G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.462+48G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.169+48G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.169+48G>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4725
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

7-29160461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160461
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160461
    reference: chr 7
allele count: 15
allele frequency: 1.299961867785212e-4
allele num: 115388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.169+48G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.169+48G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.169+48G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.462+48G>A
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19719
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15147
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-29160463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160463
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160463
    reference: chr 7
allele count: 2
allele frequency: 1.713296897219319e-5
allele num: 116734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.169+46C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.462+46C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.169+46C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.169+46C>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

7-29160480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160480
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160480
    reference: chr 7
allele count: 641
allele frequency: 5.308840337248016e-3
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.462+29C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.169+29C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.169+29C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.169+29C>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 3.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28247
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 3.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18116
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5995
  bin: 9.75e1
  variant carriers: 617
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37790
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 20
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

7-29160481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160481
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160481
    reference: chr 7
allele count: 3
allele frequency: 2.483032610494951e-5
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.169+28C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.462+28C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.169+28C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.169+28C>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5454
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

7-29160490-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160490
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160490
    reference: chr 7
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.169+19A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.462+19A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.169+19A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.169+19A>G
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5121
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

7-29160495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160495
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160495
    reference: chr 7
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.462+14A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.169+14A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.169+14A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.169+14A>G
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

7-29160500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160500
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160500
    reference: chr 7
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.169+9G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.169+9G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.169+9G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.462+9G>A
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

7-29160512-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160512
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160512
    reference: chr 7
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.459A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.166A>G
  hgvsp: ENSP00000379572.3:p.Lys56Glu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.166A>G
  hgvsp: ENSP00000265394.5:p.Lys56Glu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.166A>G
  hgvsp: ENSP00000387164.1:p.Lys56Glu
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys56Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

7-29160538-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160538
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160538
    reference: chr 7
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.433C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.140C>G
  hgvsp: ENSP00000379572.3:p.Pro47Arg
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.140C>G
  hgvsp: ENSP00000387164.1:p.Pro47Arg
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.140C>G
  hgvsp: ENSP00000413287.1:p.Pro47Arg
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.140C>G
  hgvsp: ENSP00000265394.5:p.Pro47Arg
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro47Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-29160545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160545
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160545
    reference: chr 7
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.133C>T
  hgvsp: ENSP00000413287.1:p.Leu45Phe
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.133C>T
  hgvsp: ENSP00000387164.1:p.Leu45Phe
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.426C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.133C>T
  hgvsp: ENSP00000379572.3:p.Leu45Phe
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.133C>T
  hgvsp: ENSP00000265394.5:p.Leu45Phe
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39037
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu45Phe
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

7-29160547-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160547
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160547
    reference: chr 7
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.424T>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.131T>A
  hgvsp: ENSP00000265394.5:p.Phe44Tyr
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.131T>A
  hgvsp: ENST00000455544.1:c.131T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.131T>A
  hgvsp: ENSP00000387164.1:p.Phe44Tyr
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.131T>A
  hgvsp: ENSP00000413287.1:p.Phe44Tyr
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.131T>A
  hgvsp: ENSP00000379572.3:p.Phe44Tyr
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39038
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe44Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

7-29160562-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160562
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160562
    reference: chr 7
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.116C>T
  hgvsp: ENSP00000379572.3:p.Ser39Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.116C>T
  hgvsp: ENSP00000413287.1:p.Ser39Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.116C>T
  hgvsp: ENSP00000265394.5:p.Ser39Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.116C>T
  hgvsp: ENSP00000387164.1:p.Ser39Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.409C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.116C>T
  hgvsp: ENSP00000412857.1:p.Ser39Leu
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser39Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

7-29160564-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160564
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160564
    reference: chr 7
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.114C>A
  hgvsp: ENSP00000265394.5:p.Asp38Glu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.407C>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.114C>A
  hgvsp: ENSP00000387164.1:p.Asp38Glu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.114C>A
  hgvsp: ENSP00000413287.1:p.Asp38Glu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.114C>A
  hgvsp: ENSP00000412857.1:p.Asp38Glu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.114C>A
  hgvsp: ENSP00000379572.3:p.Asp38Glu
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp38Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum

7-29160588-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160588
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160588
    reference: chr 7
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.90T>C
  hgvsp: ENST00000455544.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.90T>C
  hgvsp: ENST00000265394.5:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.90T>C
  hgvsp: ENST00000449801.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.90T>C
  hgvsp: ENST00000409850.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.383T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.90T>C
  hgvsp: ENST00000396276.3:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser30Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

7-29160596-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160596
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160596
    reference: chr 7
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.82T>C
  hgvsp: ENSP00000412857.1:p.Tyr28His
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.375T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.82T>C
  hgvsp: ENSP00000413287.1:p.Tyr28His
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.82T>C
  hgvsp: ENSP00000387164.1:p.Tyr28His
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.82T>C
  hgvsp: ENSP00000265394.5:p.Tyr28His
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.82T>C
  hgvsp: ENSP00000379572.3:p.Tyr28His
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr28His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

7-29160601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160601
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160601
    reference: chr 7
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.77C>T
  hgvsp: ENSP00000413287.1:p.Ser26Phe
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.77C>T
  hgvsp: ENSP00000412857.1:p.Ser26Phe
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.77C>T
  hgvsp: ENSP00000379572.3:p.Ser26Phe
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.370C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.77C>T
  hgvsp: ENSP00000265394.5:p.Ser26Phe
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.77C>T
  hgvsp: ENSP00000387164.1:p.Ser26Phe
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7210
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser26Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

7-29160604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160604
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160604
    reference: chr 7
allele count: 18396
allele frequency: 1.516020569620253e-1
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.74G>A
  hgvsp: ENSP00000379572.3:p.Arg25His
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.74G>A
  hgvsp: ENSP00000265394.5:p.Arg25His
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.367G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.74G>A
  hgvsp: ENSP00000412857.1:p.Arg25His
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.74G>A
  hgvsp: ENSP00000387164.1:p.Arg25His
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.74G>A
  hgvsp: ENSP00000413287.1:p.Arg25His
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 415
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 9.75e1
  variant carriers: 3342
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.25e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 15374
  bin: 2.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 6.75e1
  variant carriers: 1579
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.75e1
  variant carriers: 1343
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.25e1
  variant carriers: 722
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 1068
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 659
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 7.25e1
  variant carriers: 1477
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.75e1
  variant carriers: 1298
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 935
genotype depth: GenotypeDepth
  all individuals: 22599
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.25e1
  variant carriers: 1157
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 8.75e1
  variant carriers: 933
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 1497
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 17910
  bin: 9.75e1
  variant carriers: 16686
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 14
hgvs: p.Arg25His
num of homozygotes: 1633
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

7-29160605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160605
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160605
    reference: chr 7
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.366C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.73C>T
  hgvsp: ENSP00000265394.5:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.73C>T
  hgvsp: ENSP00000387164.1:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.73C>T
  hgvsp: ENSP00000412857.1:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.73C>T
  hgvsp: ENSP00000413287.1:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.73C>T
  hgvsp: ENSP00000379572.3:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg25Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

7-29160605-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160605
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160605
    reference: chr 7
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.73C>A
  hgvsp: ENSP00000265394.5:p.Arg25Ser
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.73C>A
  hgvsp: ENSP00000412857.1:p.Arg25Ser
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.73C>A
  hgvsp: ENSP00000387164.1:p.Arg25Ser
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.366C>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.73C>A
  hgvsp: ENSP00000413287.1:p.Arg25Ser
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.73C>A
  hgvsp: ENSP00000379572.3:p.Arg25Ser
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg25Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-29160609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160609
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160609
    reference: chr 7
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.69G>A
  hgvsp: ENST00000409850.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.69G>A
  hgvsp: ENST00000455544.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.69G>A
  hgvsp: ENST00000396276.3:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.69G>A
  hgvsp: ENST00000265394.5:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.69G>A
  hgvsp: ENST00000449801.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.362G>A
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu23Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

7-29160613-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160613
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160613
    reference: chr 7
allele count: 87
allele frequency: 7.169226712373921e-4
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.65G>C
  hgvsp: ENSP00000413287.1:p.Gly22Ala
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.65G>C
  hgvsp: ENSP00000379572.3:p.Gly22Ala
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.65G>C
  hgvsp: ENSP00000265394.5:p.Gly22Ala
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.65G>C
  hgvsp: ENSP00000412857.1:p.Gly22Ala
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.358G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.65G>C
  hgvsp: ENSP00000387164.1:p.Gly22Ala
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25246
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 9.75e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly22Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

7-29160615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160615
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160615
    reference: chr 7
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.356T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.63T>C
  hgvsp: ENST00000449801.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.63T>C
  hgvsp: ENST00000455544.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.63T>C
  hgvsp: ENST00000396276.3:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.63T>C
  hgvsp: ENST00000409850.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.63T>C
  hgvsp: ENST00000265394.5:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp21Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-29160623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160623
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160623
    reference: chr 7
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.55C>T
  hgvsp: ENSP00000265394.5:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.55C>T
  hgvsp: ENSP00000379572.3:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.55C>T
  hgvsp: ENSP00000412857.1:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.55C>T
  hgvsp: ENSP00000387164.1:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.55C>T
  hgvsp: ENSP00000413287.1:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.348C>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro19Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-29160627-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160627
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160627
    reference: chr 7
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.51T>G
  hgvsp: ENST00000449801.1:c.51T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.344T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.51T>G
  hgvsp: ENST00000265394.5:c.51T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.51T>G
  hgvsp: ENST00000455544.1:c.51T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.51T>G
  hgvsp: ENST00000409850.1:c.51T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.51T>G
  hgvsp: ENST00000396276.3:c.51T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro17Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

7-29160632-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160632
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160632
    reference: chr 7
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.46A>G
  hgvsp: ENSP00000413287.1:p.Met16Val
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.46A>G
  hgvsp: ENSP00000387164.1:p.Met16Val
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.339A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.46A>G
  hgvsp: ENSP00000265394.5:p.Met16Val
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.46A>G
  hgvsp: ENSP00000412857.1:p.Met16Val
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.46A>G
  hgvsp: ENSP00000379572.3:p.Met16Val
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met16Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

7-29160632-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160632
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160632
    reference: chr 7
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.339A>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.46A>T
  hgvsp: ENSP00000412857.1:p.Met16Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.46A>T
  hgvsp: ENSP00000387164.1:p.Met16Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.46A>T
  hgvsp: ENSP00000413287.1:p.Met16Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.46A>T
  hgvsp: ENSP00000265394.5:p.Met16Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.46A>T
  hgvsp: ENSP00000379572.3:p.Met16Leu
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met16Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

7-29160636-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160636
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160636
    reference: chr 7
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.42G>C
  hgvsp: ENST00000449801.1:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.42G>C
  hgvsp: ENST00000396276.3:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.42G>C
  hgvsp: ENST00000409850.1:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.42G>C
  hgvsp: ENST00000455544.1:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.335G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.42G>C
  hgvsp: ENST00000265394.5:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu14Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

7-29160637-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160637
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160637
    reference: chr 7
allele count: 2
allele frequency: 1.650137786505173e-5
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.41T>C
  hgvsp: ENSP00000412857.1:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.41T>C
  hgvsp: ENSP00000265394.5:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.41T>C
  hgvsp: ENSP00000387164.1:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.41T>C
  hgvsp: ENSP00000379572.3:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.334T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.41T>C
  hgvsp: ENSP00000413287.1:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu14Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-29160645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160645
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160645
    reference: chr 7
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.33G>A
  hgvsp: ENST00000265394.5:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.33G>A
  hgvsp: ENST00000449801.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.33G>A
  hgvsp: ENST00000396276.3:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.326G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.33G>A
  hgvsp: ENST00000455544.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.33G>A
  hgvsp: ENST00000409850.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser11Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

7-29160646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160646
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160646
    reference: chr 7
allele count: 1594
allele frequency: 1.316484968615791e-2
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.32C>T
  hgvsp: ENSP00000387164.1:p.Ser11Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.32C>T
  hgvsp: ENSP00000412857.1:p.Ser11Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.32C>T
  hgvsp: ENSP00000413287.1:p.Ser11Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.32C>T
  hgvsp: ENSP00000379572.3:p.Ser11Leu
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.325C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.32C>T
  hgvsp: ENSP00000265394.5:p.Ser11Leu
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 23800
  bin: 2.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 24511
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 3.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45217
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 9.75e1
  variant carriers: 1566
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser11Leu
num of homozygotes: 24
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

7-29160664-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160664
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160664
    reference: chr 7
allele count: 530
allele frequency: 4.406458371439498e-3
allele num: 120278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.14T>C
  hgvsp: ENSP00000379572.3:p.Met5Thr
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.307T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.14T>C
  hgvsp: ENSP00000387164.1:p.Met5Thr
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.14T>C
  hgvsp: ENSP00000412857.1:p.Met5Thr
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.14T>C
  hgvsp: ENSP00000265394.5:p.Met5Thr
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.14T>C
  hgvsp: ENSP00000416555.1:p.Met5Thr
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.14T>C
  hgvsp: ENSP00000413287.1:p.Met5Thr
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 24066
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 24257
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 9.75e1
  variant carriers: 525
hgvs: p.Met5Thr
num of homozygotes: 4
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

7-29160666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160666
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160666
    reference: chr 7
allele count: 1
allele frequency: 8.327226700419692e-6
allele num: 120088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.12C>T
  hgvsp: ENST00000409850.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.12C>T
  hgvsp: ENST00000437527.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.12C>T
  hgvsp: ENST00000265394.5:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.305C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.12C>T
  hgvsp: ENST00000455544.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.12C>T
  hgvsp: ENST00000396276.3:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.12C>T
  hgvsp: ENST00000449801.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala4Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-29160670-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160670
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160670
    reference: chr 7
allele count: 1
allele frequency: 8.362322718758362e-6
allele num: 119584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.8G>T
  hgvsp: ENSP00000416555.1:p.Gly3Val
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.8G>T
  hgvsp: ENSP00000412857.1:p.Gly3Val
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.8G>T
  hgvsp: ENSP00000387164.1:p.Gly3Val
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.8G>T
  hgvsp: ENSP00000265394.5:p.Gly3Val
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.8G>T
  hgvsp: ENSP00000413287.1:p.Gly3Val
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.8G>T
  hgvsp: ENSP00000379572.3:p.Gly3Val
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.301G>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly3Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

7-29160677-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160677
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160677
    reference: chr 7
allele count: 1
allele frequency: 8.480181815098116e-6
allele num: 117922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.1A>G
  hgvsp: ENSP00000265394.5:p.Met1?
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.1A>G
  hgvsp: ENSP00000387164.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.1A>G
  hgvsp: ENSP00000412857.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.1A>G
  hgvsp: ENSP00000413287.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.1A>G
  hgvsp: ENSP00000416555.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.294A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.1A>G
  hgvsp: ENSP00000379572.3:p.Met1?
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: start lost
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23265
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-29160678-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160678
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160678
    reference: chr 7
allele count: 1
allele frequency: 8.482771491101573e-6
allele num: 117886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-1G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.293G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-1G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-1G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-1G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-1G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-1G>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23271
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

7-29160688-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160688
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160688
    reference: chr 7
allele count: 1
allele frequency: 8.667313826099016e-6
allele num: 115376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-10-1G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-1G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-1G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-1G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-10-1G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-1G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-1G>C
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7635
  bin: 2.25e1
  variant carriers: 0
hgvs: c.-10-1G>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-29160691-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160691
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160691
    reference: chr 7
allele count: 1
allele frequency: 8.730574471800245e-6
allele num: 114540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-4C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-10-4C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-4C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-10-4C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-4C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-4C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-4C>G
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8938
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
hgvs: c.-10-4C>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

7-29160694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160694
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160694
    reference: chr 7
allele count: 20
allele frequency: 1.761121482159839e-4
allele num: 113564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-7A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-7A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-10-7A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-10-7A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-7A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-7A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-7A>G
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18679
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17486
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
hgvs: c.-10-7A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

7-29160696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160696
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160696
    reference: chr 7
allele count: 1
allele frequency: 8.849087659062351e-6
allele num: 113006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-9T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-9T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-9T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-9T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-10-9T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-9T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-10-9T>C
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

7-29160704-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160704
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160704
    reference: chr 7
allele count: 2
allele frequency: 1.806619453678277e-5
allele num: 110704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-17T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-17T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-17T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-17T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-10-17T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-10-17T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-17T>C
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-29160708-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160708
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160708
    reference: chr 7
allele count: 2
allele frequency: 1.832374390735515e-5
allele num: 109148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-21G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-10-21G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-21G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-21G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-21G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-10-21G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-21G>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11001
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17438
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-29160711-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160711
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160711
    reference: chr 7
allele count: 3
allele frequency: 2.762227460223925e-5
allele num: 108608
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-24T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-24T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-24T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-24T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-24T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-10-24T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-10-24T>G
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21652
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-29160713-A-AGGTAAGTAAGTTTAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160713
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160729
    reference: chr 7
allele count: 1
allele frequency: 9.311333755447131e-6
allele num: 107396
alternate allele: AGGTAAGTAAGTTTAAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

7-29160715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160715
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160715
    reference: chr 7
allele count: 1
allele frequency: 9.434140266797487e-6
allele num: 105998
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-28C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-28C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-28C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-28C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-10-28C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-10-28C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-28C>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15556
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

7-29160721-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160721
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160721
    reference: chr 7
allele count: 1
allele frequency: 9.914143517141554e-6
allele num: 100866
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-34A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-34A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-34A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-34A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-10-34A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-34A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-10-34A>C
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/7-29160729-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29160729
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29160729
    reference: chr 7
allele count: 2
allele frequency: 2.063429833068527e-5
allele num: 96926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-42T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-42T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-42T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000265394
  ensembl transcript: ENST00000265394
  gene symbol: CPVL
  hgvsc: ENST00000265394.5:c.-10-42T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000379572
  ensembl transcript: ENST00000396276
  gene symbol: CPVL
  hgvsc: ENST00000396276.3:c.-10-42T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-42T>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-42T>G
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9502
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5098
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

7-29186174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186174
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186174
    reference: chr 7
allele count: 288
allele frequency: 2.338801364300796e-2
allele num: 12314
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25487C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000462650
  ensembl transcript: ENST00000423511
  gene symbol: CHN2
  hgvsc: ENST00000423511.1:c.-26G>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25487C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25487C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25487C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25487C>T
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 7.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 1.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 3
num of homozygotes: 6
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

7-29186215-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186215
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186215
    reference: chr 7
allele count: 1
allele frequency: 6.338742393509128e-5
allele num: 15776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.16A>G
  hgvsp: ENSP00000444063.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000462650
  ensembl transcript: ENST00000423511
  gene symbol: CHN2
  hgvsc: ENST00000423511.1:c.16A>G
  hgvsp: ENSP00000462650.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.3A>G
  hgvsp: ENSP00000441183.1:p.Arg2Gly
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.11A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25528T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25528T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25528T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25528T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.16A>G
  hgvsp: ENSP00000409843.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25528T>C
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg6Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

7-29186245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186245
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186245
    reference: chr 7
allele count: 6
allele frequency: 3.652300949598247e-4
allele num: 16428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25558G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25558G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.46C>T
  hgvsp: ENSP00000409843.1:p.Leu16Phe
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25558G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.41C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.33C>T
  hgvsp: ENSP00000441183.1:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25558G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000462650
  ensembl transcript: ENST00000423511
  gene symbol: CHN2
  hgvsc: ENST00000423511.1:c.46C>T
  hgvsp: ENSP00000462650.1:p.Leu16Phe
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25558G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.46C>T
  hgvsp: ENSP00000444063.1:p.Leu16Phe
  variant of: http://identifiers.org/hgnc/1944
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu16Phe
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

7-29186247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186247
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186247
    reference: chr 7
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25560G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.48C>T
  hgvsp: ENST00000439384.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25560G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25560G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.48C>T
  hgvsp: ENST00000539406.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.35C>T
  hgvsp: ENST00000474070.1:c.35C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25560G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000462650
  ensembl transcript: ENST00000423511
  gene symbol: CHN2
  hgvsc: ENST00000423511.1:c.48C>T
  hgvsp: ENST00000423511.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.43C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25560G>A
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu16Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

7-29186251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186251
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186251
    reference: chr 7
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.47G>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.39G>A
  hgvsp: ENSP00000441183.1:p.Val14Ile
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25564C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.52G>A
  hgvsp: ENSP00000409843.1:p.Val18Ile
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000462650
  ensembl transcript: ENST00000423511
  gene symbol: CHN2
  hgvsc: ENST00000423511.1:c.52G>A
  hgvsp: ENSP00000462650.1:p.Val18Ile
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25564C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.52G>A
  hgvsp: ENSP00000444063.1:p.Val18Ile
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25564C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25564C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25564C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.4G>A
  variant of: http://identifiers.org/hgnc/1944
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val18Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

7-29186256-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186256
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186256
    reference: chr 7
allele count: 8089
allele frequency: 4.890568319226118e-1
allele num: 16540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.9A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25569T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25569T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.52A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.57A>G
  hgvsp: ENST00000539406.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25569T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000462650
  ensembl transcript: ENST00000423511
  gene symbol: CHN2
  hgvsc: ENST00000423511.1:c.57A>G
  hgvsp: ENST00000423511.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.57A>G
  hgvsp: ENST00000439384.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.44A>G
  hgvsp: ENST00000474070.1:c.44A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25569T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25569T>C
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.25e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 580
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 2.5e0
  variant carriers: 288
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 714
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 322
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.25e1
  variant carriers: 623
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 696
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 645
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 493
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 300
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 439
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
hgvs: p.Pro19Pro
num of homozygotes: 2028
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

7-29186289-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186289
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186289
    reference: chr 7
allele count: 3
allele frequency: 1.815760803776783e-4
allele num: 16522
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25602A>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.85T>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25602A>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25602A>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.90T>A
  hgvsp: ENSP00000409843.1:p.His30Gln
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.90T>A
  hgvsp: ENSP00000444063.1:p.His30Gln
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25602A>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000462650
  ensembl transcript: ENST00000423511
  gene symbol: CHN2
  hgvsc: ENST00000423511.1:c.90T>A
  hgvsp: ENSP00000462650.1:p.His30Gln
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25602A>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.42T>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.77T>A
  hgvsp: ENSP00000441183.1:p.His26Gln
  variant of: http://identifiers.org/hgnc/1944
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His30Gln
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS

7-29186352-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186352
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186352
    reference: chr 7
allele count: 412
allele frequency: 2.642380708055413e-2
allele num: 15592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25665A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.105T>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25665A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.153T>G
  hgvsp: ENST00000539406.1:c.153T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.153T>G
  hgvsp: ENST00000439384.1:c.153T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.140T>G
  hgvsp: ENST00000474070.1:c.140T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25665A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25665A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25665A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.148T>G
  variant of: http://identifiers.org/hgnc/1944
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 6.25e1
  variant carriers: 21
hgvs: p.Gly47Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-29186398-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186398
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186398
    reference: chr 7
allele count: 1
allele frequency: 6.13195977434388e-5
allele num: 16308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.114+37C>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.162+37C>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.157+37C>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+37C>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25711G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25711G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25711G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25711G>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.162+37C>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25711G>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

7-29186401-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186401
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186401
    reference: chr 7
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.157+40A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.162+40A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25714T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25714T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+40A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25714T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25714T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.114+40A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.162+40A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25714T>C
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

7-29186422-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186422
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186421
    reference: chr 7
allele count: 11
allele frequency: 6.586826347305389e-4
allele num: 16700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+65delA
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.115-39delA
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.163-39delA
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25736delT
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25736delT
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25736delT
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25736delT
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.163-39delA
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25736delT
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.158-39delA
  variant of: http://identifiers.org/hgnc/1944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TA
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

7-29186434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186434
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186434
    reference: chr 7
allele count: 226
allele frequency: 1.348287793819353e-2
allele num: 16762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+73C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25747G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.158-31C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.163-31C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25747G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25747G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25747G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25747G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.115-31C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.163-31C>T
  variant of: http://identifiers.org/hgnc/1944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

7-29186447-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186447
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186447
    reference: chr 7
allele count: 1
allele frequency: 5.913660555884092e-5
allele num: 16910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25760T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25760T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+86A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.158-18A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25760T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25760T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25760T>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.115-18A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.163-18A>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.163-18A>G
  variant of: http://identifiers.org/hgnc/1944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

7-29186453-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186453
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186453
    reference: chr 7
allele count: 1
allele frequency: 5.887894488930759e-5
allele num: 16984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.163-12T>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25766A>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.163-12T>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.158-12T>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.115-12T>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25766A>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+92T>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25766A>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25766A>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25766A>T
  variant of: http://identifiers.org/hgnc/14399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

7-29186457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186457
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186457
    reference: chr 7
allele count: 17
allele frequency: 9.948501872659176e-4
allele num: 17088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.158-8C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25770G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+96C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.115-8C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25770G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.163-8C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.163-8C>T
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25770G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25770G>A
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25770G>A
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 9.75e1
  variant carriers: 17
hgvs: c.163-8C>T
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-29186484-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186484
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186484
    reference: chr 7
allele count: 1
allele frequency: 5.703855806525211e-5
allele num: 17532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.177G>C
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.134G>C
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25797C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25797C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.182G>C
  hgvsp: ENSP00000409843.1:p.Gly61Ala
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25797C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25797C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25797C>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.182G>C
  hgvsp: ENSP00000444063.1:p.Gly61Ala
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+123G>C
  variant of: http://identifiers.org/hgnc/1944
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly61Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

7-29186488-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186488
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186488
    reference: chr 7
allele count: 2
allele frequency: 1.138433515482696e-4
allele num: 17568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.186T>C
  hgvsp: ENST00000539406.1:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+127T>C
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25801A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.186T>C
  hgvsp: ENST00000439384.1:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.181T>C
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.138T>C
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25801A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25801A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25801A>G
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25801A>G
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe62Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

7-29186493-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186493
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186493
    reference: chr 7
allele count: 9
allele frequency: 5.111893672611609e-4
allele num: 17606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25806A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25806A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25806A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25806A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.186T>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25806A>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+132T>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.143T>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.191T>G
  hgvsp: ENSP00000444063.1:p.Phe64Cys
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.191T>G
  hgvsp: ENSP00000409843.1:p.Phe64Cys
  variant of: http://identifiers.org/hgnc/1944
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Phe64Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

7-29186500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186500
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186500
    reference: chr 7
allele count: 2
allele frequency: 1.132118193139364e-4
allele num: 17666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+139G>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25813C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25813C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25813C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.193G>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.150G>A
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.198G>A
  hgvsp: ENST00000439384.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25813C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25813C>T
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.198G>A
  hgvsp: ENST00000539406.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1944
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys66Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

7-29186501-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29186501
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 29186501
    reference: chr 7
allele count: 8
allele frequency: 4.527447651386531e-4
allele num: 17670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000412857
  ensembl transcript: ENST00000455544
  gene symbol: CPVL
  hgvsc: ENST00000455544.1:c.-10-25814G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl transcript: ENST00000488891
  gene symbol: CPVL
  hgvsc: ENST00000488891.2:n.284-25814G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000416555
  ensembl transcript: ENST00000437527
  gene symbol: CPVL
  hgvsc: ENST00000437527.1:c.-10-25814G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000441183
  ensembl transcript: ENST00000474070
  gene symbol: CHN2
  hgvsc: ENST00000474070.1:c.149+140C>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000409843
  ensembl transcript: ENST00000439384
  gene symbol: CHN2
  hgvsc: ENST00000439384.1:c.199C>G
  hgvsp: ENSP00000409843.1:p.Arg67Gly
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000461824
  gene symbol: CHN2
  hgvsc: ENST00000461824.1:n.194C>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000387164
  ensembl transcript: ENST00000409850
  gene symbol: CPVL
  hgvsc: ENST00000409850.1:c.-10-25814G>C
  variant of: http://identifiers.org/hgnc/14399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106069
  ensembl protein: ENSP00000444063
  ensembl transcript: ENST00000539406
  gene symbol: CHN2
  hgvsc: ENST00000539406.1:c.199C>G
  hgvsp: ENSP00000444063.1:p.Arg67Gly
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106069
  ensembl transcript: ENST00000470261
  gene symbol: CHN2
  hgvsc: ENST00000470261.1:n.151C>G
  variant of: http://identifiers.org/hgnc/1944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106066
  ensembl protein: ENSP00000413287
  ensembl transcript: ENST00000449801
  gene symbol: CPVL
  hgvsc: ENST00000449801.1:c.-10-25814G>C
  variant of: http://identifiers.org/hgnc/14399
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg67Gly
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1517
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5727
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25144
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165228113440197e-5
allele num: 16220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
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: -5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

FS
type: SiteQuality
SIO_000300: 5.972e0

QD
type: SiteQuality
SIO_000300: 1.542e1

VQSLOD
type: SiteQuality
SIO_000300: -9.180000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.740042e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.878e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

GenotypeQuality
all individuals: 415
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5724
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1408
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65474
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.623e0

VQSLOD
type: SiteQuality
SIO_000300: -3.849e-1

DP
type: SiteQuality
SIO_000300: 1.718505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

FS
type: SiteQuality
SIO_000300: 8.709e0

QD
type: SiteQuality
SIO_000300: 1.068e1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

GenotypeQuality
all individuals: 6483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
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GenotypeQuality
all individuals: 1507
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5716
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3295
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532191340054546e-5
allele num: 65266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 1.664858e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.924e0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

FS
type: SiteQuality
SIO_000300: 5.608e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.178e0

QD
type: SiteQuality
SIO_000300: 5.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

GenotypeQuality
all individuals: 1039
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5718
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 5474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080335140463283e-5
allele num: 64928
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.219679064560268e-5
allele num: 16078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

DP
type: SiteQuality
SIO_000300: 1.613044e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.021e0

FS
type: SiteQuality
SIO_000300: 1.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

GenotypeQuality
all individuals: 887
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.191950464396285e-5
allele num: 16150
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
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: 6518
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.476796e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.487e0

QD
type: SiteQuality
SIO_000300: 1.494e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

GenotypeQuality
all individuals: 2070
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63680
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 3.957e0

QD
type: SiteQuality
SIO_000300: 1.303e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.498543e6

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 1269
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25399
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variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 12
allele frequency: 1.231021748050882e-3
allele num: 9748
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.707092582566324e-4
allele num: 11082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.957e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

DP
type: SiteQuality
SIO_000300: 1.498543e6

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

GenotypeQuality
all individuals: 1750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.101929400086854e-5
allele num: 64476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.746e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 1.868e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 1.235e1

DP
type: SiteQuality
SIO_000300: 1.532348e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1384
bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.205145973306017e-4
allele num: 66382
num of homozygotes: 0

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

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

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 44
allele frequency: 3.822098679638638e-3
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 586
allele frequency: 5.677194342181748e-2
allele num: 10322
num of homozygotes: 20

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.306e0

FS
type: SiteQuality
SIO_000300: 8.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.643607e6

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
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: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011322572874006e-5
allele num: 66416
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.634451e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.312e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.405e0

QD
type: SiteQuality
SIO_000300: 1.379e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 2.737e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 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: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.627617e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.164e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
SIO_000300: 6.028e1

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.62e-1

FS
type: SiteQuality
SIO_000300: 2.174e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

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

GenotypeQuality
all individuals: 1011
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 8624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.438000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.628563e6

MQRankSum
type: SiteQuality
SIO_000300: 2.31e0

VQSLOD
type: SiteQuality
SIO_000300: -2.535e0

QD
type: SiteQuality
SIO_000300: 1.152e1

MQ
type: SiteQuality
SIO_000300: 5.426e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 5103
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.62949e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.99e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.863e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.082e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2641
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 7223
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

MQ
type: SiteQuality
SIO_000300: 5.842e1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.68e-1

DP
type: SiteQuality
SIO_000300: 1.629518e6

FS
type: SiteQuality
SIO_000300: 2.707e0

QD
type: SiteQuality
SIO_000300: 1.449e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.717e0

GenotypeQuality
all individuals: 1391
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

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

Other
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BaseQRankSum
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SIO_000300: -1.002e0

MQRankSum
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MQ
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QD
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ReadPosRankSum
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SIO_000300: 9.63e-1

DP
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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SIO_000300: 5.727e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.367e0

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.603e0

BaseQRankSum
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SIO_000300: 1.01e0

DP
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SIO_000300: 1.630047e6

ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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SIO_000300: 1.05e0

ReadPosRankSum
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QD
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SIO_000300: 1.302e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66740
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Latino
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num of homozygotes: 0

Other
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allele num: 908
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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SIO_000300: 5.75e1

MQRankSum
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VQSLOD
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SIO_000300: -8.391999999999999e-1

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

DP
type: SiteQuality
SIO_000300: 1.631427e6

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

DP
type: SiteQuality
SIO_000300: 1.631434e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

QD
type: SiteQuality
SIO_000300: 1.02e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.631643e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.753e1

QD
type: SiteQuality
SIO_000300: 1.457e1

InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

QD
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FS
type: SiteQuality
SIO_000300: 9.568e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.34e-1

DP
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.779e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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

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

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

African
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allele count: 0
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num of homozygotes: 0

East Asian
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: 5.97e-1

QD
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VQSLOD
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FS
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ReadPosRankSum
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DP
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.212e0

MQ
type: SiteQuality
SIO_000300: 5.76e1

GenotypeQuality
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GenotypeQuality
all individuals: 34
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 8

South Asian
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allele count: 1404
allele frequency: 8.504967288587352e-2
allele num: 16508
num of homozygotes: 67

European (Finnish)
type: Population
allele count: 830
allele frequency: 1.255673222390318e-1
allele num: 6610
num of homozygotes: 45

African
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allele count: 434
allele frequency: 4.171472510572857e-2
allele num: 10404
num of homozygotes: 13

European (Non-Finnish)
type: Population
allele count: 13287
allele frequency: 1.991815074653715e-1
allele num: 66708
num of homozygotes: 1315

Latino
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allele frequency: 1.738716928929621e-1
allele num: 11566
num of homozygotes: 179

East Asian
type: Population
allele count: 276
allele frequency: 3.193705160842398e-2
allele num: 8642
num of homozygotes: 3

Other
type: Population
allele count: 154
allele frequency: 1.699779249448124e-1
allele num: 906
num of homozygotes: 11

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.806e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 398
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
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East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
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Other
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 977
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GenotypeQuality
all individuals: 2391
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.784e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

FS
type: SiteQuality
SIO_000300: 5.221e0

DP
type: SiteQuality
SIO_000300: 1.630112e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.145e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.857e1

QD
type: SiteQuality
SIO_000300: 1.207e1

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

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
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: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 1.245e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.479e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 9.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.629768e6

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

GenotypeQuality
all individuals: 45888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 7.25e1
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: 11564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 85
allele frequency: 1.27420998980632e-3
allele num: 66708
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

DP
type: SiteQuality
SIO_000300: 1.632578e6

FS
type: SiteQuality
SIO_000300: 1.983e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

QD
type: SiteQuality
SIO_000300: 1.353e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.847e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.840000000000001e-1

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

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 8648
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: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.786e0

QD
type: SiteQuality
SIO_000300: 1.019e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.82e-1

DP
type: SiteQuality
SIO_000300: 1.628817e6

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

MQ
type: SiteQuality
SIO_000300: 5.794e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.518e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.827e0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

FS
type: SiteQuality
SIO_000300: 4.452e0

DP
type: SiteQuality
SIO_000300: 1.628117e6

QD
type: SiteQuality
SIO_000300: 1.621e1

VQSLOD
type: SiteQuality
SIO_000300: -1.304e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.095e0

MQ
type: SiteQuality
SIO_000300: 5.77e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.752e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.116e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

DP
type: SiteQuality
SIO_000300: 1.627443e6

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

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6933
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

FS
type: SiteQuality
SIO_000300: 7.39e0

DP
type: SiteQuality
SIO_000300: 1.626895e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.445e0

MQ
type: SiteQuality
SIO_000300: 5.815e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.125e1

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

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

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.815e1

FS
type: SiteQuality
SIO_000300: 7.39e0

DP
type: SiteQuality
SIO_000300: 1.626895e6

VQSLOD
type: SiteQuality
SIO_000300: -1.445e0

QD
type: SiteQuality
SIO_000300: 1.125e1

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

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

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 949
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 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: 10386
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

VQSLOD
type: SiteQuality
SIO_000300: -8.401999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.625886e6

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

FS
type: SiteQuality
SIO_000300: 3.657e0

MQ
type: SiteQuality
SIO_000300: 5.804e1

QD
type: SiteQuality
SIO_000300: 9.6e0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1640
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 45763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.625578e6

QD
type: SiteQuality
SIO_000300: 1.115e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.699e1

FS
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.702e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 298
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 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: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.624054e6

VQSLOD
type: SiteQuality
SIO_000300: -1.13e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

QD
type: SiteQuality
SIO_000300: 2.077e1

GenotypeQuality
all individuals: 1507
bin: 7.25e1
variant carriers: 1

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 7
bin: 1.75e1
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GenotypeQuality
all individuals: 1486
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variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 10
allele frequency: 1.106194690265487e-2
allele num: 904
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1191
allele frequency: 1.789040437421138e-2
allele num: 66572
num of homozygotes: 23

South Asian
type: Population
allele count: 214
allele frequency: 1.298701298701299e-2
allele num: 16478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 2.884031572556163e-3
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 128
allele frequency: 1.109954908081859e-2
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 2.986512524084778e-3
allele num: 10380
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.661763e6

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.95e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 1.338e0

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6452
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variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 51
allele frequency: 7.793398533007335e-3
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 323
allele frequency: 4.888754351445436e-3
allele num: 66070
num of homozygotes: 2

Latino
type: Population
allele count: 14
allele frequency: 1.222493887530562e-3
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.258714175058095e-3
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.444444444444444e-3
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 125
allele frequency: 7.6247407588142e-3
allele num: 16394
num of homozygotes: 2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.458e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.611025e6

MQ
type: SiteQuality
SIO_000300: 5.892e1

GenotypeQuality
all individuals: 45789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1873
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GenotypeQuality
all individuals: 1294
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GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 1408
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65980
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.112469437652811e-5
allele num: 16360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 1.596316e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 5.691e1

VQSLOD
type: SiteQuality
SIO_000300: -1.074e0

QD
type: SiteQuality
SIO_000300: 1.411e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.575e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

GenotypeQuality
all individuals: 45084
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1334
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variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 1860
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variant carriers: 1

GenotypeQuality
all individuals: 6329
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variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.533272002453235e-4
allele num: 6522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e0

VQSLOD
type: SiteQuality
SIO_000300: -2.318e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 5.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

DP
type: SiteQuality
SIO_000300: 1.585086e6

GenotypeQuality
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4019
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
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variant carriers: 0

GenotypeQuality
all individuals: 321
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variant carriers: 0

GenotypeQuality
all individuals: 677
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 679
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variant carriers: 0

GenotypeQuality
all individuals: 1852
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GenotypeQuality
all individuals: 230
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variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5625
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64796
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.25e-5
allele num: 16000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.905e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.82e1

DP
type: SiteQuality
SIO_000300: 1.541106e6

VQSLOD
type: SiteQuality
SIO_000300: -2.651e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

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

GenotypeQuality
all individuals: 458
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variant carriers: 0

GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 5605
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GenotypeQuality
all individuals: 1177
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GenotypeQuality
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GenotypeQuality
all individuals: 1851
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 679
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543733983759918e-5
allele num: 64778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.997e0

DP
type: SiteQuality
SIO_000300: 1.540487e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: -1.254e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.811e0

QD
type: SiteQuality
SIO_000300: 1.157e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
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GenotypeQuality
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GenotypeQuality
all individuals: 84
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 273
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GenotypeQuality
all individuals: 4936
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63444
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.424257998201208e-5
allele num: 15566
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.809e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.077e0

QD
type: SiteQuality
SIO_000300: 1.17e1

DP
type: SiteQuality
SIO_000300: 1.458243e6

MQ
type: SiteQuality
SIO_000300: 5.864e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: -1.828e0

GenotypeQuality
all individuals: 35643
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 1937
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GenotypeQuality
all individuals: 466
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GenotypeQuality
all individuals: 248
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GenotypeQuality
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GenotypeQuality
all individuals: 965
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4726
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GenotypeQuality
all individuals: 1848
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 9.147457006952067e-5
allele num: 10932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63024
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.673e0

QD
type: SiteQuality
SIO_000300: 1.442e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.425639e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

GenotypeQuality
all individuals: 1082
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variant carriers: 1

GenotypeQuality
all individuals: 59
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GenotypeQuality
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GenotypeQuality
all individuals: 33011
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GenotypeQuality
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GenotypeQuality
all individuals: 920
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GenotypeQuality
all individuals: 1865
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variant carriers: 19

GenotypeQuality
all individuals: 956
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GenotypeQuality
all individuals: 600
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GenotypeQuality
all individuals: 2525
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variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15272
num of homozygotes: 0

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

East Asian
type: Population
allele count: 20
allele frequency: 2.513826043237808e-3
allele num: 7956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.384163e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11577
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.025220422390814e-4
allele num: 9754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15206
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.87e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.356397e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.005e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.338e0

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.8e-2

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5956
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.641658731982795e-5
allele num: 60914
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.04602510460251e-4
allele num: 9560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

FS
type: SiteQuality
SIO_000300: 6.13e0

VQSLOD
type: SiteQuality
SIO_000300: -5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

DP
type: SiteQuality
SIO_000300: 1.219173e6

QD
type: SiteQuality
SIO_000300: 1.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 339
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7024
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5048
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
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variant carriers: 0

GenotypeQuality
all individuals: 16004
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variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 664
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.915708812260536e-4
allele num: 10440
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60058
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 6.901e0

QD
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -2.443e0

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.172136e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

GenotypeQuality
all individuals: 880
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1032
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.012841091492777e-4
allele num: 7476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14438
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

DP
type: SiteQuality
SIO_000300: 1.127134e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.317e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

GenotypeQuality
all individuals: 1097
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.690217023865864e-5
allele num: 59164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.751e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.278e0

MQ
type: SiteQuality
SIO_000300: 4.128e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.487e0

FS
type: SiteQuality
SIO_000300: 1.3707e1

VQSLOD
type: SiteQuality
SIO_000300: -3.288e0

DP
type: SiteQuality
SIO_000300: 1.093603e6

QD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 244
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5628
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9051
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2129
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9464
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.711508181009105e-5
allele num: 58428
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.799e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.867e0

MQRankSum
type: SiteQuality
SIO_000300: -1.25e0

MQ
type: SiteQuality
SIO_000300: 4.022e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.897e0

QD
type: SiteQuality
SIO_000300: 3.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

DP
type: SiteQuality
SIO_000300: 1.074556e6

FS
type: SiteQuality
SIO_000300: 1.1046e1

GenotypeQuality
all individuals: 3787
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.795074316076686e-5
allele num: 55708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.556e0

DP
type: SiteQuality
SIO_000300: 1.028536e6

QD
type: SiteQuality
SIO_000300: 5.97e0

MQ
type: SiteQuality
SIO_000300: 5.122e1

GenotypeQuality
all individuals: 9280
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7322
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.119151590767311e-4
allele num: 6412
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.015341e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

QD
type: SiteQuality
SIO_000300: 1.705e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.608e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: -1.915e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 334
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1376
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1342
bin: 9.75e1
variant carriers: 277

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1556
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 4.580152671755725e-2
allele num: 262
num of homozygotes: 0

African
type: Population
allele count: 76
allele frequency: 8.71559633027523e-2
allele num: 872
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 58
allele frequency: 1.332720588235294e-2
allele num: 4352
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.265822784810127e-2
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 136
allele frequency: 2.932298404484692e-2
allele num: 4638
num of homozygotes: 3

East Asian
type: Population
allele count: 4
allele frequency: 8.403361344537815e-3
allele num: 476
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.658e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

DP
type: SiteQuality
SIO_000300: 1.75745e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeQuality
all individuals: 245
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 510
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GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.75e1
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GenotypeQuality
all individuals: 341
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 99
bin: 3.75e1
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GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.407261469180974e-4
allele num: 7106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 1.1614e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.488e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-1

QD
type: SiteQuality
SIO_000300: 1.895e1

VQSLOD
type: SiteQuality
SIO_000300: -1.701e0

DP
type: SiteQuality
SIO_000300: 2.28883e5

GenotypeQuality
all individuals: 2106
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 518
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variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 4256
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GenotypeQuality
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GenotypeQuality
all individuals: 197
bin: 2.5e0
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GenotypeQuality
all individuals: 56
bin: 1.25e1
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
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GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 981
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 9.75e1
variant carriers: 6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 3.934942287513117e-4
allele num: 7624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.424657534246575e-3
allele num: 292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.7821482602118e-4
allele num: 5288
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.45e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.523e0

FS
type: SiteQuality
SIO_000300: 2.4616e1

DP
type: SiteQuality
SIO_000300: 2.4232e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1210
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 192
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GenotypeQuality
all individuals: 198
bin: 9.25e1
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GenotypeQuality
all individuals: 173
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GenotypeQuality
all individuals: 4
bin: 4.75e1
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GenotypeQuality
all individuals: 4270
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variant carriers: 0

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

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.424657534246575e-3
allele num: 292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 2.42611e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.692e0

FS
type: SiteQuality
SIO_000300: 1.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.216e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 138
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GenotypeQuality
all individuals: 199
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variant carriers: 0

GenotypeQuality
all individuals: 2160
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 1212
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variant carriers: 1

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.5e0
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GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4272
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 521
bin: 7.75e1
variant carriers: 0

African
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: 490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.30718954248366e-4
allele num: 7650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.131e1

FS
type: SiteQuality
SIO_000300: 6.909e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.925e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

DP
type: SiteQuality
SIO_000300: 2.43071e5

GenotypeQuality
all individuals: 283
bin: 6.75e1
variant carriers: 24

GenotypeQuality
all individuals: 460
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 85

GenotypeQuality
all individuals: 1076
bin: 7.5e0
variant carriers: 164

GenotypeQuality
all individuals: 88
bin: 8.25e1
variant carriers: 31

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 31

GenotypeQuality
all individuals: 123
bin: 7.75e1
variant carriers: 19

GenotypeQuality
all individuals: 120
bin: 7.25e1
variant carriers: 14

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 28

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1340
bin: 6.25e1
variant carriers: 31

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 17

GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 89

GenotypeQuality
all individuals: 6228
bin: 9.75e1
variant carriers: 5930

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 39

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 31

European (Non-Finnish)
type: Population
allele count: 2116
allele frequency: 3.958099513655069e-1
allele num: 5346
num of homozygotes: 411

African
type: Population
allele count: 536
allele frequency: 5.903083700440529e-1
allele num: 908
num of homozygotes: 159

East Asian
type: Population
allele count: 330
allele frequency: 6.707317073170732e-1
allele num: 492
num of homozygotes: 108

South Asian
type: Population
allele count: 4219
allele frequency: 5.503522045395252e-1
allele num: 7666
num of homozygotes: 1158

Latino
type: Population
allele count: 175
allele frequency: 5.993150684931506e-1
allele num: 292
num of homozygotes: 55

European (Finnish)
type: Population
allele count: 619
allele frequency: 3.802211302211302e-1
allele num: 1628
num of homozygotes: 119

Other
type: Population
allele count: 94
allele frequency: 4.519230769230769e-1
allele num: 208
num of homozygotes: 18

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.081e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.17e0

DP
type: SiteQuality
SIO_000300: 4.58172e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.639e0

QD
type: SiteQuality
SIO_000300: 1.838e1

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1684
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variant carriers: 2

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 172
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 493
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GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 186
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GenotypeQuality
all individuals: 1188
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variant carriers: 0

GenotypeQuality
all individuals: 168
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variant carriers: 0

GenotypeQuality
all individuals: 316
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GenotypeQuality
all individuals: 3675
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.913383772501957e-4
allele num: 7666
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: -2.254e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.37e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

DP
type: SiteQuality
SIO_000300: 2.92629e5

QD
type: SiteQuality
SIO_000300: 2.236e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 381
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 18

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 17

GenotypeQuality
all individuals: 109
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variant carriers: 8

GenotypeQuality
all individuals: 391
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variant carriers: 16

GenotypeQuality
all individuals: 243
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variant carriers: 10

GenotypeQuality
all individuals: 778
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variant carriers: 5

GenotypeQuality
all individuals: 290
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variant carriers: 13

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 18

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 21

GenotypeQuality
all individuals: 1373
bin: 9.75e1
variant carriers: 182

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 14

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 18

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 13

GenotypeQuality
all individuals: 908
bin: 6.75e1
variant carriers: 16

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 346
allele frequency: 3.326923076923077e-1
allele num: 1040
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 3.409090909090909e-2
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 59
allele frequency: 1.154598825831703e-2
allele num: 5110
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.58025e2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.543e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.84e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -1.113e2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.611e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 3.01453e5

GenotypeQuality
all individuals: 296
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
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GenotypeQuality
all individuals: 1291
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variant carriers: 0

GenotypeQuality
all individuals: 397
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GenotypeQuality
all individuals: 2347
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GenotypeQuality
all individuals: 513
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GenotypeQuality
all individuals: 182
bin: 4.25e1
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GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 2064
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GenotypeQuality
all individuals: 262
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GenotypeQuality
all individuals: 64
bin: 1.75e1
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GenotypeQuality
all individuals: 55
bin: 5.75e1
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GenotypeQuality
all individuals: 805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
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GenotypeQuality
all individuals: 211
bin: 2.75e1
variant carriers: 0

African
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: 7596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.914975105323631e-4
allele num: 5222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.02232e5

MQRankSum
type: SiteQuality
SIO_000300: -9.08e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.389e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e0

FS
type: SiteQuality
SIO_000300: 6.779e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

GenotypeQuality
all individuals: 1236
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variant carriers: 0

GenotypeQuality
all individuals: 328
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GenotypeQuality
all individuals: 432
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GenotypeQuality
all individuals: 271
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GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 259
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GenotypeQuality
all individuals: 153
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GenotypeQuality
all individuals: 2065
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GenotypeQuality
all individuals: 129
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GenotypeQuality
all individuals: 514
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GenotypeQuality
all individuals: 2198
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GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.157635467980296e-4
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.505e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.35e0

DP
type: SiteQuality
SIO_000300: 3.03131e5

FS
type: SiteQuality
SIO_000300: 1.0387e1

QD
type: SiteQuality
SIO_000300: 1.236e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

MQ
type: SiteQuality
SIO_000300: 5.753e1

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.005103900838498e-3
allele num: 5486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.094e0

QD
type: SiteQuality
SIO_000300: 1.352e1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 3.28596e5

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 228

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 1

Other
type: Population
allele count: 2
allele frequency: 9.523809523809525e-3
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 96
allele frequency: 1.73850054328142e-2
allele num: 5522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 76
allele frequency: 9.937238493723849e-3
allele num: 7648
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.23728813559322e-3
allele num: 944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 48
allele frequency: 2.881152460984394e-2
allele num: 1666
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.33381e5

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.427e1

FS
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.771793054571226e-4
allele num: 5644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.611e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.283e1

FS
type: SiteQuality
SIO_000300: 1.1398e1

DP
type: SiteQuality
SIO_000300: 3.34033e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 394
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GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.066115702479339e-3
allele num: 484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

DP
type: SiteQuality
SIO_000300: 3.35668e5

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.448e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

GenotypeQuality
all individuals: 532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

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

African
type: Population
allele count: 17
allele frequency: 1.745379876796714e-2
allele num: 974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1674
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.37349e5

FS
type: SiteQuality
SIO_000300: 1.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.21e1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.472e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635055591890124e-4
allele num: 6116
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 1.868e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.42478e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -1.027e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.608922515001304e-4
allele num: 7666
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.582e1

DP
type: SiteQuality
SIO_000300: 3.42795e5

FS
type: SiteQuality
SIO_000300: 5.49e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 640
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GenotypeQuality
all individuals: 735
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.865390853065196e-4
allele num: 6166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.826767545003914e-4
allele num: 7666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

QD
type: SiteQuality
SIO_000300: 1.768e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.45e-1

DP
type: SiteQuality
SIO_000300: 3.43505e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 2558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 95
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 292
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 543
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 732
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.608922515001304e-4
allele num: 7666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

QD
type: SiteQuality
SIO_000300: 1.331e1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.911e0

DP
type: SiteQuality
SIO_000300: 3.43595e5

MQ
type: SiteQuality
SIO_000300: 6.0e1