3-148562248-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562248
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562248
    reference: chr 3
allele count: 2
allele frequency: 1.729924229318756e-5
allele num: 115612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.475-17T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl transcript: ENST00000484877
  gene symbol: CPB1
  hgvsc: ENST00000484877.1:n.543-17T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.577-17T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.577-17T>C
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

3-148562264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562264
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562264
    reference: chr 3
allele count: 2
allele frequency: 1.672800267648043e-5
allele num: 119560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.577-1G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.577-1G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.475-1G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000153002
  ensembl transcript: ENST00000484877
  gene symbol: CPB1
  hgvsc: ENST00000484877.1:n.543-1G>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9677
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
hgvs: c.577-1G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-148562264-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562264
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562264
    reference: chr 3
allele count: 4
allele frequency: 3.345600535296086e-5
allele num: 119560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.577-1G>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000153002
  ensembl transcript: ENST00000484877
  gene symbol: CPB1
  hgvsc: ENST00000484877.1:n.543-1G>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.577-1G>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.475-1G>C
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 9.25e1
  variant carriers: 0
hgvs: c.577-1G>C
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-148562268-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562268
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562268
    reference: chr 3
allele count: 2
allele frequency: 1.666833350001667e-5
allele num: 119988
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.580G>C
  hgvsp: ENSP00000417222.1:p.Val194Leu
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.580G>C
  hgvsp: ENSP00000282957.4:p.Val194Leu
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153002
  ensembl transcript: ENST00000484877
  gene symbol: CPB1
  hgvsc: ENST00000484877.1:n.546G>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.478G>C
  hgvsp: ENSP00000419427.1:p.Val160Leu
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val194Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-148562271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562271
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562271
    reference: chr 3
allele count: 1
allele frequency: 8.320575118152166e-6
allele num: 120184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.481C>T
  hgvsp: ENSP00000419427.1:p.Arg161Cys
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153002
  ensembl transcript: ENST00000484877
  gene symbol: CPB1
  hgvsc: ENST00000484877.1:n.549C>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.583C>T
  hgvsp: ENSP00000417222.1:p.Arg195Cys
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.583C>T
  hgvsp: ENSP00000282957.4:p.Arg195Cys
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg195Cys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

3-148562272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562272
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562272
    reference: chr 3
allele count: 1111
allele frequency: 9.236320103752723e-3
allele num: 120286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153002
  ensembl transcript: ENST00000484877
  gene symbol: CPB1
  hgvsc: ENST00000484877.1:n.550G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.584G>A
  hgvsp: ENSP00000282957.4:p.Arg195His
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.584G>A
  hgvsp: ENSP00000417222.1:p.Arg195His
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.482G>A
  hgvsp: ENSP00000419427.1:p.Arg161His
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 2.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 40276
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 9.75e1
  variant carriers: 1096
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6591
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg195His
num of homozygotes: 13
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

3-148562283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562283
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562283
    reference: chr 3
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153002
  ensembl transcript: ENST00000484877
  gene symbol: CPB1
  hgvsc: ENST00000484877.1:n.561C>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.595C>T
  hgvsp: ENSP00000282957.4:p.Arg199Cys
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.595C>T
  hgvsp: ENSP00000417222.1:p.Arg199Cys
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.493C>T
  hgvsp: ENSP00000419427.1:p.Arg165Cys
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg199Cys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-148562284-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562284
    reference: chr 3
allele count: 6
allele frequency: 4.968944099378882e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.494G>A
  hgvsp: ENSP00000419427.1:p.Arg165His
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.596G>A
  hgvsp: ENSP00000417222.1:p.Arg199His
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.596G>A
  hgvsp: ENSP00000282957.4:p.Arg199His
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg199His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-148562284-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562284
    reference: chr 3
allele count: 3
allele frequency: 2.484472049689441e-5
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.596G>T
  hgvsp: ENSP00000417222.1:p.Arg199Leu
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.596G>T
  hgvsp: ENSP00000282957.4:p.Arg199Leu
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.494G>T
  hgvsp: ENSP00000419427.1:p.Arg165Leu
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg199Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-148562290-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562290
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562290
    reference: chr 3
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.602T>G
  hgvsp: ENSP00000282957.4:p.Ile201Ser
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.500T>G
  hgvsp: ENSP00000419427.1:p.Ile167Ser
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.602T>G
  hgvsp: ENSP00000417222.1:p.Ile201Ser
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile201Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

3-148562291-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562291
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562291
    reference: chr 3
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.603C>G
  hgvsp: ENSP00000417222.1:p.Ile201Met
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.501C>G
  hgvsp: ENSP00000419427.1:p.Ile167Met
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.603C>G
  hgvsp: ENSP00000282957.4:p.Ile201Met
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile201Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

3-148562309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562309
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562309
    reference: chr 3
allele count: 44
allele frequency: 3.635582436831755e-4
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.621C>T
  hgvsp: ENST00000282957.4:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.519C>T
  hgvsp: ENST00000468341.1:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.621C>T
  hgvsp: ENST00000491148.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu207Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-148562310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562310
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562310
    reference: chr 3
allele count: 27722
allele frequency: 2.289522802728729e-1
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.622G>A
  hgvsp: ENSP00000282957.4:p.Asp208Asn
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.622G>A
  hgvsp: ENSP00000417222.1:p.Asp208Asn
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.520G>A
  hgvsp: ENSP00000419427.1:p.Asp174Asn
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 1947
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 3.25e1
  variant carriers: 570
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.25e1
  variant carriers: 1354
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 9.25e1
  variant carriers: 796
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 5.75e1
  variant carriers: 2215
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 2346
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.75e1
  variant carriers: 880
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 4.25e1
  variant carriers: 1276
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 4.75e1
  variant carriers: 1665
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 8.75e1
  variant carriers: 1112
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 5.25e1
  variant carriers: 2012
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 2.75e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 6.75e1
  variant carriers: 2217
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.75e1
  variant carriers: 1753
genotype depth: GenotypeDepth
  all individuals: 23777
  bin: 2.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 9.75e1
  variant carriers: 3622
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 6.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 9.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 7.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 23739
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 26659
  bin: 9.75e1
  variant carriers: 24081
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 8.25e1
  variant carriers: 31
hgvs: p.Asp208Asn
num of homozygotes: 3396
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

3-148562315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562315
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562315
    reference: chr 3
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.525G>A
  hgvsp: ENST00000468341.1:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.627G>A
  hgvsp: ENST00000491148.1:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.627G>A
  hgvsp: ENST00000282957.4:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys209Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-148562321-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562321
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562321
    reference: chr 3
allele count: 3
allele frequency: 2.47610558114198e-5
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.633C>A
  hgvsp: ENSP00000282957.4:p.Asp211Glu
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.531C>A
  hgvsp: ENSP00000419427.1:p.Asp177Glu
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.633C>A
  hgvsp: ENSP00000417222.1:p.Asp211Glu
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp211Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-148562322-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562322
    reference: chr 3
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.532T>A
  hgvsp: ENSP00000419427.1:p.Phe178Ile
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.634T>A
  hgvsp: ENSP00000282957.4:p.Phe212Ile
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.634T>A
  hgvsp: ENSP00000417222.1:p.Phe212Ile
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21111
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe212Ile
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

3-148562327-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562327
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562327
    reference: chr 3
allele count: 2
allele frequency: 1.650655310158133e-5
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.537T>C
  hgvsp: ENST00000468341.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.639T>C
  hgvsp: ENST00000491148.1:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.639T>C
  hgvsp: ENST00000282957.4:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  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: 1896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21111
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Tyr213Tyr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-148562342-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562342
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562342
    reference: chr 3
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.654C>A
  hgvsp: ENST00000282957.4:c.654C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.552C>A
  hgvsp: ENST00000468341.1:c.552C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.654C>A
  hgvsp: ENST00000491148.1:c.654C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21111
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu218Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

3-148562343-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562343
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562343
    reference: chr 3
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.553A>G
  hgvsp: ENSP00000419427.1:p.Asn185Asp
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.655A>G
  hgvsp: ENSP00000282957.4:p.Asn219Asp
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.655A>G
  hgvsp: ENSP00000417222.1:p.Asn219Asp
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24689
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn219Asp
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-148562346-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562346
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562346
    reference: chr 3
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.658A>G
  hgvsp: ENSP00000282957.4:p.Ile220Val
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.658A>G
  hgvsp: ENSP00000417222.1:p.Ile220Val
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.556A>G
  hgvsp: ENSP00000419427.1:p.Ile186Val
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21113
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ile220Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

3-148562352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562352
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562352
    reference: chr 3
allele count: 2
allele frequency: 1.650382888830209e-5
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.562G>A
  hgvsp: ENSP00000419427.1:p.Gly188Ser
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.664G>A
  hgvsp: ENSP00000282957.4:p.Gly222Ser
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.664G>A
  hgvsp: ENSP00000417222.1:p.Gly222Ser
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21111
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly222Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-148562359-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562359
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562359
    reference: chr 3
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.671T>A
  hgvsp: ENSP00000417222.1:p.Ile224Asn
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.671T>A
  hgvsp: ENSP00000282957.4:p.Ile224Asn
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.569T>A
  hgvsp: ENSP00000419427.1:p.Ile190Asn
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile224Asn
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-148562364-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562364
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562363
    reference: chr 3
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.576delC
  hgvsp: ENSP00000419427.1:p.Trp193GlyfsTer?
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.678delC
  hgvsp: ENSP00000282957.4:p.Trp227GlyfsTer75
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.678delC
  hgvsp: ENSP00000417222.1:p.Trp227GlyfsTer75
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp227GlyfsTer75
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: AC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

3-148562367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562367
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562367
    reference: chr 3
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.679T>C
  hgvsp: ENSP00000417222.1:p.Trp227Arg
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.679T>C
  hgvsp: ENSP00000282957.4:p.Trp227Arg
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.577T>C
  hgvsp: ENSP00000419427.1:p.Trp193Arg
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21104
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24563
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp227Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

3-148562369-G-GAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562369
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562371
    reference: chr 3
allele count: 13
allele frequency: 1.072837407364616e-4
allele num: 121174
alternate allele: GAC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.682_683dupAC
  hgvsp: ENSP00000282957.4:p.Lys229ProfsTer74
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.580_581dupAC
  hgvsp: ENSP00000419427.1:p.Lys195ProfsTer?
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.682_683dupAC
  hgvsp: ENSP00000417222.1:p.Lys229ProfsTer74
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21110
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys229ProfsTer74
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-148562376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562376
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562376
    reference: chr 3
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+1G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+1G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+1G>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21108
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 7.75e1
  variant carriers: 0
hgvs: c.687+1G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

3-148562378-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562378
    reference: chr 3
allele count: 3
allele frequency: 2.475574333245313e-5
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+3A>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+3A>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+3A>T
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21110
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24358
  bin: 6.25e1
  variant carriers: 0
hgvs: c.687+3A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-148562381-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562381
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562381
    reference: chr 3
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+6T>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+6T>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+6T>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 9.25e1
  variant carriers: 0
hgvs: c.687+6T>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-148562381-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562381
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562381
    reference: chr 3
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+6T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+6T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+6T>C
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: c.687+6T>C
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-148562389-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562389
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562389
    reference: chr 3
allele count: 3
allele frequency: 2.475737769855417e-5
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+14T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+14T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+14T>C
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21112
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-148562392-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562392
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562390
    reference: chr 3
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+23_687+24delAG
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+23_687+24delAG
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+23_585+24delAG
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21115
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: TGA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

3-148562397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562397
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562397
    reference: chr 3
allele count: 3
allele frequency: 2.479461791493793e-5
allele num: 120994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+22G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+22G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+22G>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26520
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

3-148562397-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562397
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562397
    reference: chr 3
allele count: 27607
allele frequency: 2.281683389258972e-1
allele num: 120994
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+22G>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+22G>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+22G>C
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 1720
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 2.75e1
  variant carriers: 512
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.75e1
  variant carriers: 2844
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 1307
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.75e1
  variant carriers: 911
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.75e1
  variant carriers: 2775
genotype depth: GenotypeDepth
  all individuals: 23186
  bin: 2.25e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 3.25e1
  variant carriers: 1013
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 5.25e1
  variant carriers: 2983
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 2030
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 6.25e1
  variant carriers: 2398
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 4.25e1
  variant carriers: 2285
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 658
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 431
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 6.75e1
  variant carriers: 1740
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 364
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 8.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 26520
  bin: 9.75e1
  variant carriers: 23889
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 39
num of homozygotes: 3322
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-148562399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562399
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562399
    reference: chr 3
allele count: 27608
allele frequency: 2.281351226284128e-1
allele num: 121016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+24G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+24G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+24G>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.75e1
  variant carriers: 2814
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 2740
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 4.25e1
  variant carriers: 2355
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.25e1
  variant carriers: 1051
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 1762
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 410
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 663
genotype depth: GenotypeDepth
  all individuals: 23156
  bin: 2.25e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 6.75e1
  variant carriers: 1710
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 5.25e1
  variant carriers: 3009
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 1247
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 6.25e1
  variant carriers: 2367
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 368
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 2.75e1
  variant carriers: 524
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.75e1
  variant carriers: 922
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 9.75e1
  variant carriers: 2013
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 6.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 23210
  bin: 6.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 26523
  bin: 9.75e1
  variant carriers: 23889
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.75e1
  variant carriers: 33
num of homozygotes: 3323
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-148562399-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562399
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562399
    reference: chr 3
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+24G>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+24G>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+24G>T
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26523
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

3-148562400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562400
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562400
    reference: chr 3
allele count: 4
allele frequency: 3.30114714863415e-5
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+25G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+25G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+25G>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12359
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-148562405-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562405
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562405
    reference: chr 3
allele count: 2
allele frequency: 1.650709805216243e-5
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+30T>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+30T>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+30T>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12355
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

3-148562406-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562406
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562405
    reference: chr 3
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+34delA
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+34delA
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+34delA
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: GA
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

3-148562419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562419
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562419
    reference: chr 3
allele count: 7
allele frequency: 5.778056591937135e-5
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.585+44A>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.687+44A>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.687+44A>G
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12361
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

3-148562420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562420
    reference: chr 3
allele count: 322
allele frequency: 2.658213218419271e-3
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-44C>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-44C>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-44C>T
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23560
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 4.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 4.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 6
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

3-148562421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562421
    reference: chr 3
allele count: 16
allele frequency: 1.320633243640325e-4
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-43G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-43G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-43G>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12254
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-148562421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562421
    reference: chr 3
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-43G>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-43G>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-43G>C
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28428
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-148562421-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562421
    reference: chr 3
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-43G>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-43G>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-43G>T
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-148562422-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562422
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562422
    reference: chr 3
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-42C>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-42C>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-42C>G
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-148562423-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562423
    reference: chr 3
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-41C>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-41C>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-41C>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-148562425-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562425
    reference: chr 3
allele count: 25850
allele frequency: 2.134564251622599e-1
allele num: 121102
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-39C>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-39C>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-39C>G
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.25e1
  variant carriers: 2369
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.75e1
  variant carriers: 1230
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 5.25e1
  variant carriers: 2483
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 9.75e1
  variant carriers: 2162
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 2.75e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 4.75e1
  variant carriers: 2273
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 3.25e1
  variant carriers: 674
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 863
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 4.25e1
  variant carriers: 1770
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 6.75e1
  variant carriers: 2071
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 1237
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 468
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 8.75e1
  variant carriers: 593
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 2.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.75e1
  variant carriers: 2556
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 7.25e1
  variant carriers: 1583
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 6.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28916
  bin: 9.75e1
  variant carriers: 22788
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 9.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 8.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 2
num of homozygotes: 2895
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

3-148562432-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562432
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562432
    reference: chr 3
allele count: 1362
allele frequency: 1.123502821130432e-2
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-32A>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-32A>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-32A>G
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 5.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 3.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 11985
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 4.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 9.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.75e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13455
  bin: 9.75e1
  variant carriers: 1329
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4445
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23623
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 32
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

3-148562434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562434
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562434
    reference: chr 3
allele count: 4
allele frequency: 3.299295600389317e-5
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-30A>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-30A>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-30A>G
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13389
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

3-148562443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562443
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562443
    reference: chr 3
allele count: 3
allele frequency: 2.474267616785431e-5
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-21A>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-21A>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-21A>G
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13385
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

3-148562453-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562453
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562453
    reference: chr 3
allele count: 3
allele frequency: 2.473818751546137e-5
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.586-11T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.688-11T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.688-11T>C
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13386
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

3-148562467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562467
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562467
    reference: chr 3
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.691C>T
  hgvsp: ENSP00000282957.4:p.Arg231Ter
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.589C>T
  hgvsp: ENSP00000419427.1:p.Arg197Ter
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.691C>T
  hgvsp: ENSP00000417222.1:p.Arg231Ter
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13385
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg231Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-148562467-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562467
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562467
    reference: chr 3
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.589C>G
  hgvsp: ENSP00000419427.1:p.Arg197Gly
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.691C>G
  hgvsp: ENSP00000417222.1:p.Arg231Gly
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.691C>G
  hgvsp: ENSP00000282957.4:p.Arg231Gly
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg231Gly
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

3-148562468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562468
    reference: chr 3
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.692G>A
  hgvsp: ENSP00000417222.1:p.Arg231Gln
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.692G>A
  hgvsp: ENSP00000282957.4:p.Arg231Gln
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.590G>A
  hgvsp: ENSP00000419427.1:p.Arg197Gln
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13382
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg231Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-148562470-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562470
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562470
    reference: chr 3
allele count: 1477
allele frequency: 1.217541834968263e-2
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.694T>C
  hgvsp: ENSP00000417222.1:p.Phe232Leu
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.592T>C
  hgvsp: ENSP00000419427.1:p.Phe198Leu
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.694T>C
  hgvsp: ENSP00000282957.4:p.Phe232Leu
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13000
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 9.75e1
  variant carriers: 876
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13506
  bin: 9.75e1
  variant carriers: 1443
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe232Leu
num of homozygotes: 32
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-148562485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562485
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562485
    reference: chr 3
allele count: 7
allele frequency: 5.769103975736797e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.709C>T
  hgvsp: ENSP00000282957.4:p.Arg237Cys
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.607C>T
  hgvsp: ENSP00000419427.1:p.Arg203Cys
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.709C>T
  hgvsp: ENSP00000417222.1:p.Arg237Cys
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12381
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7727
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg237Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

3-148562486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562486
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562486
    reference: chr 3
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.608G>A
  hgvsp: ENSP00000419427.1:p.Arg203His
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.710G>A
  hgvsp: ENSP00000282957.4:p.Arg237His
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.710G>A
  hgvsp: ENSP00000417222.1:p.Arg237His
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24347
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 4575
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genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12376
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg237His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-148562488-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562488
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562488
    reference: chr 3
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000419427
  ensembl transcript: ENST00000468341
  gene symbol: CPB1
  hgvsc: ENST00000468341.1:c.610T>A
  hgvsp: ENST00000468341.1:c.610T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.712T>A
  hgvsp: ENSP00000282957.4:p.Ser238Thr
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.712T>A
  hgvsp: ENSP00000417222.1:p.Ser238Thr
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12376
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4575
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genotype quality: GenotypeQuality
  all individuals: 3904
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 24362
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser238Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-148562489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562489
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562489
    reference: chr 3
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.713C>T
  hgvsp: ENSP00000282957.4:p.Ser238Phe
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.713C>T
  hgvsp: ENSP00000417222.1:p.Ser238Phe
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser238Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-148562497-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562497
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562497
    reference: chr 3
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.721A>G
  hgvsp: ENSP00000282957.4:p.Thr241Ala
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.721A>G
  hgvsp: ENSP00000417222.1:p.Thr241Ala
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7727
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr241Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.499250374812594e-5
  allele num: 66700
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-148562505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562505
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562505
    reference: chr 3
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.729T>C
  hgvsp: ENST00000491148.1:c.729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.729T>C
  hgvsp: ENST00000282957.4:c.729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7720
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 2808
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24368
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser243Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.73190162798753e-4
  allele num: 11548
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-148562513-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562513
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562513
    reference: chr 3
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.737T>C
  hgvsp: ENSP00000417222.1:p.Ile246Thr
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.737T>C
  hgvsp: ENSP00000282957.4:p.Ile246Thr
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13034
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile246Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

3-148562524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562524
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562524
    reference: chr 3
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.748C>T
  hgvsp: ENSP00000417222.1:p.Pro250Ser
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.748C>T
  hgvsp: ENSP00000282957.4:p.Pro250Ser
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro250Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11534
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-148562538-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562538
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562538
    reference: chr 3
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.762T>G
  hgvsp: ENSP00000282957.4:p.Phe254Leu
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.762T>G
  hgvsp: ENSP00000417222.1:p.Phe254Leu
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe254Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

3-148562540-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562540
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562540
    reference: chr 3
allele count: 5
allele frequency: 4.12275928033114e-5
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.764A>G
  hgvsp: ENSP00000417222.1:p.Asp255Gly
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.764A>G
  hgvsp: ENSP00000282957.4:p.Asp255Gly
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  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: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12368
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4574
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genotype quality: GenotypeQuality
  all individuals: 116
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genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp255Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 5
  allele frequency: 4.807692307692308e-4
  allele num: 10400
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

3-148562541-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562541
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562541
    reference: chr 3
allele count: 5
allele frequency: 4.122827270028695e-5
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.765T>G
  hgvsp: ENSP00000282957.4:p.Asp255Glu
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.765T>G
  hgvsp: ENSP00000417222.1:p.Asp255Glu
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
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genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12368
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4574
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 130
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp255Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

3-148562542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562542
    reference: chr 3
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.766G>A
  hgvsp: ENSP00000282957.4:p.Ala256Thr
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.766G>A
  hgvsp: ENSP00000417222.1:p.Ala256Thr
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12363
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala256Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.05766900896535e-5
  allele num: 16508
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-148562550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562550
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562550
    reference: chr 3
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.774G>A
  hgvsp: ENSP00000417222.1:p.Trp258Ter
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.774G>A
  hgvsp: ENSP00000282957.4:p.Trp258Ter
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11317
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7682
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4567
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp258Ter
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

3-148562560-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562560
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562560
    reference: chr 3
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.778+6T>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.778+6T>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12795
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
hgvs: c.778+6T>A
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6588
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

3-148562560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562560
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562560
    reference: chr 3
allele count: 894
allele frequency: 7.378185659580087e-3
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.778+6T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.778+6T>C
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 5.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 11175
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12795
  bin: 9.75e1
  variant carriers: 862
genotype quality: GenotypeQuality
  all individuals: 23708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 7.25e1
  variant carriers: 0
hgvs: c.778+6T>C
num of homozygotes: 28
population: African
  type: Population
  allele count: 793
  allele frequency: 7.627933820700269e-2
  allele num: 10396
  num of homozygotes: 28
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS

3-148562566-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562566
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562566
    reference: chr 3
allele count: 4
allele frequency: 3.302455375571737e-5
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.778+12G>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.778+12G>T
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12186
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 252
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genotype quality: GenotypeQuality
  all individuals: 23782
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.503152206544582e-5
  allele num: 66620
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-148562567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562567
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562567
    reference: chr 3
allele count: 159
allele frequency: 1.328209840447749e-3
allele num: 119710
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.778+13C>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.778+13C>T
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11311
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 7532
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 23511
  bin: 6.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11592
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 10
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 3
  allele frequency: 3.48594004183128e-4
  allele num: 8606
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-148562573-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562573
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562573
    reference: chr 3
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.778+19A>T
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.778+19A>T
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1821
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12499
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6602
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-148562578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562578
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562578
    reference: chr 3
allele count: 2
allele frequency: 1.651636772041093e-5
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.778+24G>A
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.778+24G>A
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 400
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11464
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

3-148562585-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562585
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562585
    reference: chr 3
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.778+31T>C
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.778+31T>C
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2996
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8622
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

3-148562591-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562591
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562590
    reference: chr 3
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.778+42delA
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.778+42delA
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12477
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7077
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66536
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: GA
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

3-148562594-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148562594
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148562594
    reference: chr 3
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000282957
  ensembl transcript: ENST00000282957
  gene symbol: CPB1
  hgvsc: ENST00000282957.4:c.778+40A>G
  variant of: http://identifiers.org/hgnc/2299
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153002
  ensembl protein: ENSP00000417222
  ensembl transcript: ENST00000491148
  gene symbol: CPB1
  hgvsc: ENST00000491148.1:c.778+40A>G
  variant of: http://identifiers.org/hgnc/2299
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66544
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

GenotypeQuality
all individuals: 3769
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.240436148586214e-5
allele num: 10822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567250728771589e-5
allele num: 63806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 3.636e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.444425e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.492e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3879
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
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: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035085589413621e-5
allele num: 65896
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.162e0

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.511337e6

QD
type: SiteQuality
SIO_000300: 1.387e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.901677721420211e-4
allele num: 10252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65896
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.387e1

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.162e0

DP
type: SiteQuality
SIO_000300: 1.511337e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66084
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.869966294128082e-5
allele num: 11274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.136475208640157e-5
allele num: 16296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

FS
type: SiteQuality
SIO_000300: 2.309e0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

DP
type: SiteQuality
SIO_000300: 1.517888e6

GenotypeQuality
all individuals: 606
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.173e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.187e1

FS
type: SiteQuality
SIO_000300: 7.107e0

DP
type: SiteQuality
SIO_000300: 1.521859e6

GenotypeQuality
all individuals: 1036
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2887
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 957
allele frequency: 1.4448772533744e-2
allele num: 66234
num of homozygotes: 12

Other
type: Population
allele count: 6
allele frequency: 6.696428571428571e-3
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 47
allele frequency: 4.154879773691655e-3
allele num: 11312
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 2.326032176778446e-3
allele num: 10318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 3.656307129798903e-3
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 53
allele frequency: 3.24000489057342e-3
allele num: 16358
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

DP
type: SiteQuality
SIO_000300: 1.555398e6

QD
type: SiteQuality
SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 2324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.362e0

QD
type: SiteQuality
SIO_000300: 1.026e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

FS
type: SiteQuality
SIO_000300: 8.625e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

DP
type: SiteQuality
SIO_000300: 1.553148e6

GenotypeQuality
all individuals: 1124
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.931247585940518e-4
allele num: 10356
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.643603436266543e-4
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

DP
type: SiteQuality
SIO_000300: 1.554227e6

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
all individuals: 2326
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.823486506199854e-4
allele num: 16452
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.554227e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.556073e6

QD
type: SiteQuality
SIO_000300: 1.31e1

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.58e-1

FS
type: SiteQuality
SIO_000300: 5.147e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16470
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

DP
type: SiteQuality
SIO_000300: 1.556373e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
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: 8638
num of homozygotes: 0

African
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allele count: 43
allele frequency: 4.144178874325367e-3
allele num: 10376
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
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Latino
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allele count: 1
allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.501e0

QD
type: SiteQuality
SIO_000300: 1.257e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

DP
type: SiteQuality
SIO_000300: 1.5624e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 7

East Asian
type: Population
allele count: 2256
allele frequency: 2.615348945049849e-1
allele num: 8626
num of homozygotes: 290

Other
type: Population
allele count: 201
allele frequency: 2.223451327433628e-1
allele num: 904
num of homozygotes: 30

European (Non-Finnish)
type: Population
allele count: 13909
allele frequency: 2.08937960042061e-1
allele num: 66570
num of homozygotes: 1529

African
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allele count: 3248
allele frequency: 3.124879738310564e-1
allele num: 10394
num of homozygotes: 499

European (Finnish)
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allele count: 1583
allele frequency: 2.39775825507422e-1
allele num: 6602
num of homozygotes: 171

Latino
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allele count: 1680
allele frequency: 1.461886529759833e-1
allele num: 11492
num of homozygotes: 117

South Asian
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allele count: 4845
allele frequency: 2.937431793379411e-1
allele num: 16494
num of homozygotes: 760

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 1.529e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

FS
type: SiteQuality
SIO_000300: 5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.685109e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11498
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.176e0

DP
type: SiteQuality
SIO_000300: 2.30927e6

QD
type: SiteQuality
SIO_000300: 1.572e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.472222222222222e-4
allele num: 8640
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.948e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.174e0

VQSLOD
type: SiteQuality
SIO_000300: -2.192e0

DP
type: SiteQuality
SIO_000300: 2.309601e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 2.238e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 2.309562e6

QD
type: SiteQuality
SIO_000300: 7.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.025e0

FS
type: SiteQuality
SIO_000300: 5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.71e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

DP
type: SiteQuality
SIO_000300: 2.309671e6

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 2.310266e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.411e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 8.18e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.955e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 2.310186e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

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

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

East Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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MQ
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GenotypeQuality
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South Asian
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East Asian
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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Latino
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allele num: 11512
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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African
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
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allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 0.0e0
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East Asian
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ReadPosRankSum
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VQSLOD
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FS
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DP
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQ
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.314279102059708e-4
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500960614793468e-5
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African
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European (Finnish)
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allele frequency: 1.818181818181818e-3
allele num: 6600
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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MQRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

FS
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MQ
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VQSLOD
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BaseQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.736e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502341217433065e-5
allele num: 66632
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
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South Asian
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allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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MQRankSum
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VQSLOD
type: SiteQuality
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QD
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
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allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66636
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
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allele num: 8638
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: 11506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.50220608097968e-5
allele num: 66634
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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African
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South Asian
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.89e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.309191e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 6.06134076857801e-5
allele num: 16498
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Latino
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allele frequency: 8.692628650904033e-5
allele num: 11504
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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Other
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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QD
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FS
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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allele count: 3
allele frequency: 3.481894150417827e-4
allele num: 8616
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Other
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
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FS
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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QD
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GenotypeQuality
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bin: 6.25e1
variant carriers: 29

South Asian
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allele frequency: 2.933503215629171e-1
allele num: 16482
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European (Non-Finnish)
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allele frequency: 2.080865774838419e-1
allele num: 66530
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East Asian
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allele frequency: 2.613741875580315e-1
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African
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allele frequency: 3.116933153534964e-1
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European (Finnish)
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allele count: 1573
allele frequency: 2.38622572815534e-1
allele num: 6592
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Other
type: Population
allele count: 201
allele frequency: 2.223451327433628e-1
allele num: 904
num of homozygotes: 30

Latino
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allele count: 1666
allele frequency: 1.450208913649025e-1
allele num: 11488
num of homozygotes: 109

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 8.25e1
variant carriers: 45

African
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allele frequency: 3.116933153534964e-1
allele num: 10382
num of homozygotes: 491

Latino
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allele frequency: 1.450461431307679e-1
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European (Finnish)
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allele frequency: 2.38622572815534e-1
allele num: 6592
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European (Non-Finnish)
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allele frequency: 2.080515733477594e-1
allele num: 66546
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Other
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East Asian
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allele count: 2252
allele frequency: 2.613135298213042e-1
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South Asian
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allele frequency: 2.932435710819991e-1
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Other
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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MQ
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.502746675472038e-5
allele num: 66626
num of homozygotes: 0

Latino
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East Asian
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allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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FS
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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Latino
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allele count: 2
allele frequency: 1.738828029907842e-4
allele num: 11502
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African
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allele frequency: 0.0e0
allele num: 10396
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66618
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East 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

QD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

East Asian
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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
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Latino
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allele frequency: 0.0e0
allele num: 11500
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66612
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South Asian
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African
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allele frequency: 0.0e0
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FS
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.026968e6

MQ
type: SiteQuality
SIO_000300: 6.087e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.505478999669759e-5
allele num: 66618
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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African
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East Asian
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allele frequency: 1.158480074142725e-4
allele num: 8632
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South Asian
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 316

European (Non-Finnish)
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allele count: 5
allele frequency: 7.506380423359856e-5
allele num: 66610
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
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Other
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allele count: 4
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South Asian
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allele count: 307
allele frequency: 1.86105722599418e-2
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Latino
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allele frequency: 1.73973556019485e-4
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African
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allele frequency: 2.887391722810395e-4
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.829e1

QD
type: SiteQuality
SIO_000300: 1.415e1

VQSLOD
type: SiteQuality
SIO_000300: -3.488e-1

DP
type: SiteQuality
SIO_000300: 2.030454e6

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 15
allele frequency: 2.251643699900928e-4
allele num: 66618
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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South Asian
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.026885e6

ClippingRankSum
type: SiteQuality
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MQ
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QD
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

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: 6602
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66618
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African
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East Asian
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allele frequency: 1.157675387821255e-4
allele num: 8638
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Latino
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allele frequency: 0.0e0
allele num: 11500
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South Asian
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Other
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.139e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

QD
type: SiteQuality
SIO_000300: 1.858e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 1.157675387821255e-4
allele num: 8638
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Other
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DP
type: SiteQuality
SIO_000300: 2.026885e6

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
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South Asian
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African
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Other
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.138e0

GenotypeQuality
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variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
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South Asian
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Other
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 12

South Asian
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allele frequency: 1.650703200775946e-1
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Latino
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allele frequency: 1.903270702853166e-1
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African
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allele frequency: 1.779253271747498e-1
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European (Non-Finnish)
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allele count: 15275
allele frequency: 2.293543543543544e-1
allele num: 66600
num of homozygotes: 1772

European (Finnish)
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allele frequency: 1.925757575757576e-1
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East Asian
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allele frequency: 2.738675958188153e-1
allele num: 8610
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Other
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allele frequency: 2.048458149779736e-1
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FS
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele frequency: 7.111882046834345e-2
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East Asian
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allele frequency: 3.822098679638638e-2
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African
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allele frequency: 2.982489898018087e-3
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European (Finnish)
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allele frequency: 6.055101422948834e-4
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European (Non-Finnish)
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allele count: 140
allele frequency: 2.100336053768603e-3
allele num: 66656
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Other
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allele count: 9
allele frequency: 9.911894273127754e-3
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South Asian
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allele frequency: 1.696969696969697e-3
allele num: 16500
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

DP
type: SiteQuality
SIO_000300: 2.242908e6

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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Latino
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African
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East Asian
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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East Asian
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African
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Other
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.500720115218435e-5
allele num: 66656
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European (Finnish)
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FS
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BaseQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.97e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 2.243754e6

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.499640028797696e-5
allele num: 66672
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.244591e6

ClippingRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

GenotypeQuality
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variant carriers: 0

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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European (Non-Finnish)
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African
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East Asian
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InbreedingCoeff
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ClippingRankSum
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MQ
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 2.245381e6

GenotypeQuality
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East Asian
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African
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South Asian
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
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Latino
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allele num: 11550
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European (Finnish)
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allele num: 6612
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
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ReadPosRankSum
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MQ
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
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allele num: 6612
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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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Latino
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allele frequency: 0.0e0
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South Asian
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Other
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African
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European (Non-Finnish)
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

South Asian
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allele count: 29
allele frequency: 1.756936871440688e-3
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Other
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allele count: 9
allele frequency: 9.911894273127754e-3
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European (Non-Finnish)
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allele count: 151
allele frequency: 2.264139626941762e-3
allele num: 66692
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European (Finnish)
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allele count: 4
allele frequency: 6.049606775559589e-4
allele num: 6612
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African
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allele frequency: 1.192078446452605e-2
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Latino
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allele count: 829
allele frequency: 7.179975749177205e-2
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East Asian
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allele count: 331
allele frequency: 3.829245719574271e-2
allele num: 8644
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.99e-2

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele num: 6614
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African
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allele frequency: 2.884060757546626e-4
allele num: 10402
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South Asian
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allele count: 0
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.997361161089121e-5
allele num: 66696
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Other
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Latino
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East Asian
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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Latino
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allele frequency: 0.0e0
allele num: 11550
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele count: 0
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East Asian
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allele frequency: 1.155535012710885e-4
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South Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.998500749625187e-5
allele num: 66700
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African
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East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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allele count: 0
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.209e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.91e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 2.206915e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

South Asian
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allele num: 16508
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
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African
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Other
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East Asian
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allele frequency: 1.155535012710885e-4
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Latino
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allele count: 0
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.206873e6

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.373e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

ClippingRankSum
type: SiteQuality
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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 count: 0
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South Asian
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East Asian
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African
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Other
type: Population
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

African
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allele num: 10404
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

East Asian
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Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

African
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.206889e6

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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South Asian
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allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

African
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Latino
type: Population
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allele frequency: 8.676036786395974e-5
allele num: 11526
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.787e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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Latino
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allele frequency: 0.0e0
allele num: 11528
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East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
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MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

DP
type: SiteQuality
SIO_000300: 2.205743e6

QD
type: SiteQuality
SIO_000300: 1.364e1

Other
type: Population
allele count: 0
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allele num: 908
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South Asian
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allele frequency: 0.0e0
allele num: 16508
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
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African
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allele count: 5
allele frequency: 4.807692307692308e-4
allele num: 10400
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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East Asian
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

FS
type: SiteQuality
SIO_000300: 1.261e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.205321e6

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 11528
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 908
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East Asian
type: Population
allele count: 0
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allele num: 8650
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MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 2.993e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.422e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.673e0

DP
type: SiteQuality
SIO_000300: 2.205126e6

QD
type: SiteQuality
SIO_000300: 6.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
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Latino
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allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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African
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allele count: 0
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allele num: 10400
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East Asian
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.79e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 3.812e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

DP
type: SiteQuality
SIO_000300: 2.203936e6

East Asian
type: Population
allele count: 0
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allele num: 8652
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Latino
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allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
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African
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allele count: 0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.5e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.62e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

DP
type: SiteQuality
SIO_000300: 2.233731e6

Other
type: Population
allele count: 5
allele frequency: 5.506607929515419e-3
allele num: 908
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European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.253677574302011e-4
allele num: 66620
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
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Latino
type: Population
allele count: 50
allele frequency: 4.346314325452016e-3
allele num: 11504
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 11
allele frequency: 6.666666666666666e-4
allele num: 16500
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MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

DP
type: SiteQuality
SIO_000300: 2.233731e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.62e-2

QD
type: SiteQuality
SIO_000300: 1.5e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

Other
type: Population
allele count: 0
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allele num: 908
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South Asian
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allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
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MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 2.198506e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

FS
type: SiteQuality
SIO_000300: 3.6138e1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.892e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.095e0

VQSLOD
type: SiteQuality
SIO_000300: -7.175e0

African
type: Population
allele count: 25
allele frequency: 2.458210422812193e-3
allele num: 10170
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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European (Non-Finnish)
type: Population
allele count: 79
allele frequency: 1.200644396486215e-3
allele num: 65798
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.288329519450801e-3
allele num: 874
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European (Finnish)
type: Population
allele count: 48
allele frequency: 7.599746675110829e-3
allele num: 6316
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Latino
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allele count: 2
allele frequency: 1.746419839329375e-4
allele num: 11452
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MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 4.1131e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

DP
type: SiteQuality
SIO_000300: 2.209875e6

VQSLOD
type: SiteQuality
SIO_000300: -9.449e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.072e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

QD
type: SiteQuality
SIO_000300: 6.4e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
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African
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allele count: 0
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East Asian
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allele count: 0
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Latino
type: Population
allele count: 0
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South Asian
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allele count: 0
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DP
type: SiteQuality
SIO_000300: 2.205142e6

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

FS
type: SiteQuality
SIO_000300: 2.955e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.36e-1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00228173411793e-5
allele num: 66616
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Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.862e0

DP
type: SiteQuality
SIO_000300: 2.201467e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

South Asian
type: Population
allele count: 0
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Other
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allele count: 0
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Latino
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allele count: 1
allele frequency: 8.722958827634333e-5
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
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East Asian
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allele count: 0
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South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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Latino
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allele count: 0
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allele num: 11450
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Other
type: Population
allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.053e1

DP
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SIO_000300: 2.171347e6

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ClippingRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 5.913e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.636e0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
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East Asian
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allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
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