1-43111927-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43111927
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43111927
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 22524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1379T>A
  hgvsp: ENSP00000426711.1:p.Leu460His
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1106T>A
  hgvsp: ENSP00000421479.2:p.Leu369His
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1379T>A
  hgvsp: ENSP00000375051.4:p.Leu460His
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2012T>A
  hgvsp: ENSP00000397035.2:p.Leu671His
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1789T>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2012T>A
  hgvsp: ENSP00000339280.4:p.Leu671His
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2012T>A
  hgvsp: ENSP00000340378.3:p.Leu671His
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30890
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Leu671His
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-43111949-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43111949
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43111949
    reference: chr 1
allele count: 1
allele frequency: 4.911591355599214e-5
allele num: 20360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1401T>C
  hgvsp: ENST00000507855.1:c.1401T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1811T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1128T>C
  hgvsp: ENST00000477155.1:c.1128T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1401T>C
  hgvsp: ENST00000390640.4:c.1401T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2034T>C
  hgvsp: ENST00000428554.2:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2034T>C
  hgvsp: ENST00000342022.4:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2034T>C
  hgvsp: ENST00000340612.4:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25896
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val678Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-43111978-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43111978
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43111978
    reference: chr 1
allele count: 1
allele frequency: 5.931901767706727e-5
allele num: 16858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2063C>G
  hgvsp: ENSP00000339280.4:p.Ser688Cys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1157C>G
  hgvsp: ENSP00000421479.2:p.Ser386Cys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1430C>G
  hgvsp: ENSP00000426711.1:p.Ser477Cys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2063C>G
  hgvsp: ENSP00000397035.2:p.Ser688Cys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1840C>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2063C>G
  hgvsp: ENSP00000340378.3:p.Ser688Cys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1430C>G
  hgvsp: ENSP00000375051.4:p.Ser477Cys
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser688Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-43119002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119002
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119002
    reference: chr 1
allele count: 1
allele frequency: 8.522388314101144e-6
allele num: 117338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1851-45G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2074-45G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1168-45G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1441-45G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1441-45G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2074-45G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2074-45G>A
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9411
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

1-43119012-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119012
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119012
    reference: chr 1
allele count: 1
allele frequency: 8.486947075398038e-6
allele num: 117828
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2074-35A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1168-35A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2074-35A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1851-35A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1441-35A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1441-35A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2074-35A>G
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9419
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-43119028-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119028
    reference: chr 1
allele count: 1
allele frequency: 8.377454594196099e-6
allele num: 119368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2074-19A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2074-19A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1168-19A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2074-19A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1441-19A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1441-19A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1851-19A>G
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9426
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-43119035-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119035
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119035
    reference: chr 1
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2074-12C>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1851-12C>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2074-12C>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1441-12C>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1441-12C>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2074-12C>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1168-12C>A
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27961
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29357
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-43119059-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119059
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119058
    reference: chr 1
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2087delG
  hgvsp: ENSP00000339280.4:p.Ser696MetfsTer8
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1864delG
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1454delG
  hgvsp: ENSP00000426711.1:p.Ser485MetfsTer8
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1454delG
  hgvsp: ENSP00000375051.4:p.Ser485MetfsTer8
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2087delG
  hgvsp: ENSP00000397035.2:p.Ser696MetfsTer8
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2087delG
  hgvsp: ENSP00000340378.3:p.Ser696MetfsTer8
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1181delG
  hgvsp: ENSP00000421479.2:p.Ser394MetfsTer8
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9428
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser696MetfsTer8
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: AG
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-43119065-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119065
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119065
    reference: chr 1
allele count: 4
allele frequency: 3.306331625061994e-5
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2092A>G
  hgvsp: ENSP00000339280.4:p.Ile698Val
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1459A>G
  hgvsp: ENSP00000426711.1:p.Ile487Val
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1869A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2092A>G
  hgvsp: ENSP00000397035.2:p.Ile698Val
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1459A>G
  hgvsp: ENSP00000375051.4:p.Ile487Val
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1186A>G
  hgvsp: ENSP00000421479.2:p.Ile396Val
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2092A>G
  hgvsp: ENSP00000340378.3:p.Ile698Val
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile698Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/1-43119073-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119073
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119073
    reference: chr 1
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2100A>C
  hgvsp: ENSP00000340378.3:p.Glu700Asp
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1877A>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1467A>C
  hgvsp: ENSP00000426711.1:p.Glu489Asp
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2100A>C
  hgvsp: ENSP00000339280.4:p.Glu700Asp
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1194A>C
  hgvsp: ENSP00000421479.2:p.Glu398Asp
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1467A>C
  hgvsp: ENSP00000375051.4:p.Glu489Asp
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2100A>C
  hgvsp: ENSP00000397035.2:p.Glu700Asp
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9428
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu700Asp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-43119075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119075
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119075
    reference: chr 1
allele count: 3
allele frequency: 2.478806206930742e-5
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1196C>T
  hgvsp: ENSP00000421479.2:p.Ser399Phe
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2102C>T
  hgvsp: ENSP00000339280.4:p.Ser701Phe
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2102C>T
  hgvsp: ENSP00000340378.3:p.Ser701Phe
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1879C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1469C>T
  hgvsp: ENSP00000426711.1:p.Ser490Phe
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2102C>T
  hgvsp: ENSP00000397035.2:p.Ser701Phe
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1469C>T
  hgvsp: ENSP00000375051.4:p.Ser490Phe
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7234
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser701Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-43119076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119076
    reference: chr 1
allele count: 2
allele frequency: 1.652455548945733e-5
allele num: 121032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2103C>T
  hgvsp: ENST00000342022.4:c.2103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1470C>T
  hgvsp: ENST00000390640.4:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2103C>T
  hgvsp: ENST00000428554.2:c.2103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1197C>T
  hgvsp: ENST00000477155.1:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1470C>T
  hgvsp: ENST00000507855.1:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2103C>T
  hgvsp: ENST00000340612.4:c.2103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1880C>T
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser701Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-43119077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119077
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119077
    reference: chr 1
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1198G>A
  hgvsp: ENSP00000421479.2:p.Glu400Lys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2104G>A
  hgvsp: ENSP00000339280.4:p.Glu702Lys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2104G>A
  hgvsp: ENSP00000397035.2:p.Glu702Lys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1881G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1471G>A
  hgvsp: ENSP00000426711.1:p.Glu491Lys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1471G>A
  hgvsp: ENSP00000375051.4:p.Glu491Lys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2104G>A
  hgvsp: ENSP00000340378.3:p.Glu702Lys
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu702Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-43119104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119104
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119104
    reference: chr 1
allele count: 2
allele frequency: 1.654451301225948e-5
allele num: 120886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1908T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1498T>C
  hgvsp: ENSP00000426711.1:p.Ser500Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1225T>C
  hgvsp: ENSP00000421479.2:p.Ser409Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2131T>C
  hgvsp: ENSP00000340378.3:p.Ser711Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2131T>C
  hgvsp: ENSP00000397035.2:p.Ser711Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2131T>C
  hgvsp: ENSP00000339280.4:p.Ser711Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1498T>C
  hgvsp: ENSP00000375051.4:p.Ser500Pro
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser711Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

1-43119158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119158
    reference: chr 1
allele count: 1
allele frequency: 8.357570287166115e-6
allele num: 119652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2141+44G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1508+44G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1918+44G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1508+44G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2141+44G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1235+44G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2141+44G>A
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-43119164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119164
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119164
    reference: chr 1
allele count: 2
allele frequency: 1.676305422848043e-5
allele num: 119310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1235+50C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1918+50C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1508+50C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2141+50C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1508+50C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2141+50C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2141+50C>T
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12767
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-43119452-CTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119450
    reference: chr 1
allele count: 1
allele frequency: 8.532860044029558e-6
allele num: 117194
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2142-35_2142-34delAT
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1919-35_*1919-34delAT
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1236-35_1236-34delAT
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2142-35_2142-34delAT
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1509-35_1509-34delAT
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2142-35_2142-34delAT
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1509-35_1509-34delAT
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: CTA
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-43119453-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119453
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119453
    reference: chr 1
allele count: 5
allele frequency: 4.261702635436909e-5
allele num: 117324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1509-36T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2142-36T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1919-36T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2142-36T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1509-36T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2142-36T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1236-36T>C
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22142
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-43119455-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119455
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119455
    reference: chr 1
allele count: 1
allele frequency: 8.518613169775961e-6
allele num: 117390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1919-34T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2142-34T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1509-34T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2142-34T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1509-34T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1236-34T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2142-34T>C
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19159
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-43119456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119456
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119456
    reference: chr 1
allele count: 1
allele frequency: 8.520790729379687e-6
allele num: 117360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1509-33G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2142-33G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1509-33G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1236-33G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1919-33G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2142-33G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2142-33G>A
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19266
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-43119461-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119461
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119461
    reference: chr 1
allele count: 1
allele frequency: 8.48838788537281e-6
allele num: 117808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2142-28T>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1509-28T>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2142-28T>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1509-28T>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1236-28T>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2142-28T>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1919-28T>G
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

1-43119486-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119487
    reference: chr 1
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1919-2dupA
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1236-2dupA
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2142-2dupA
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1509-2dupA
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2142-2dupA
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1509-2dupA
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2142-2dupA
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2142-2dupA
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-43119487-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119487
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119487
    reference: chr 1
allele count: 2
allele frequency: 1.664752201634787e-5
allele num: 120138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1919-2A>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1509-2A>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1509-2A>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1236-2A>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2142-2A>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2142-2A>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2142-2A>C
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21892
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2142-2A>C
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-43119495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119495
    reference: chr 1
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1242A>G
  hgvsp: ENST00000477155.1:c.1242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1515A>G
  hgvsp: ENST00000507855.1:c.1515A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1515A>G
  hgvsp: ENST00000390640.4:c.1515A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2148A>G
  hgvsp: ENST00000342022.4:c.2148A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2148A>G
  hgvsp: ENST00000428554.2:c.2148A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2148A>G
  hgvsp: ENST00000340612.4:c.2148A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1925A>G
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser716Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-43119497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119497
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119497
    reference: chr 1
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1244G>A
  hgvsp: ENSP00000421479.2:p.Gly415Glu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2150G>A
  hgvsp: ENSP00000340378.3:p.Gly717Glu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1517G>A
  hgvsp: ENSP00000426711.1:p.Gly506Glu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1517G>A
  hgvsp: ENSP00000375051.4:p.Gly506Glu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2150G>A
  hgvsp: ENSP00000397035.2:p.Gly717Glu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1927G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2150G>A
  hgvsp: ENSP00000339280.4:p.Gly717Glu
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5780
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly717Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-43119502-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119502
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119502
    reference: chr 1
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2155G>T
  hgvsp: ENSP00000340378.3:p.Gly719Cys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2155G>T
  hgvsp: ENSP00000339280.4:p.Gly719Cys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1249G>T
  hgvsp: ENSP00000421479.2:p.Gly417Cys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2155G>T
  hgvsp: ENSP00000397035.2:p.Gly719Cys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1522G>T
  hgvsp: ENSP00000426711.1:p.Gly508Cys
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1932G>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1522G>T
  hgvsp: ENSP00000375051.4:p.Gly508Cys
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly719Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

1-43119503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119503
    reference: chr 1
allele count: 16
allele frequency: 1.323955316508068e-4
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2156G>A
  hgvsp: ENSP00000397035.2:p.Gly719Asp
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2156G>A
  hgvsp: ENSP00000339280.4:p.Gly719Asp
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1523G>A
  hgvsp: ENSP00000375051.4:p.Gly508Asp
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1250G>A
  hgvsp: ENSP00000421479.2:p.Gly417Asp
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1933G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1523G>A
  hgvsp: ENSP00000426711.1:p.Gly508Asp
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2156G>A
  hgvsp: ENSP00000340378.3:p.Gly719Asp
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28108
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly719Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

1-43119503-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119502
    reference: chr 1
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2159delT
  hgvsp: ENSP00000397035.2:p.Leu720TrpfsTer2
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1936delT
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1526delT
  hgvsp: ENSP00000426711.1:p.Leu509TrpfsTer2
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1526delT
  hgvsp: ENSP00000375051.4:p.Leu509TrpfsTer2
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1253delT
  hgvsp: ENSP00000421479.2:p.Leu418TrpfsTer2
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2159delT
  hgvsp: ENSP00000340378.3:p.Leu720TrpfsTer2
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2159delT
  hgvsp: ENSP00000339280.4:p.Leu720TrpfsTer2
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu720TrpfsTer2
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: GT
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

1-43119509-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119509
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119509
    reference: chr 1
allele count: 2
allele frequency: 1.652810604432838e-5
allele num: 121006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1529T>C
  hgvsp: ENSP00000375051.4:p.Val510Ala
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2162T>C
  hgvsp: ENSP00000339280.4:p.Val721Ala
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1529T>C
  hgvsp: ENSP00000426711.1:p.Val510Ala
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2162T>C
  hgvsp: ENSP00000340378.3:p.Val721Ala
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2162T>C
  hgvsp: ENSP00000397035.2:p.Val721Ala
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1256T>C
  hgvsp: ENSP00000421479.2:p.Val419Ala
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1939T>C
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val721Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

1-43119515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119515
    reference: chr 1
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2168C>T
  hgvsp: ENSP00000339280.4:p.Ser723Leu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2168C>T
  hgvsp: ENSP00000340378.3:p.Ser723Leu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2168C>T
  hgvsp: ENSP00000397035.2:p.Ser723Leu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1535C>T
  hgvsp: ENSP00000375051.4:p.Ser512Leu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1535C>T
  hgvsp: ENSP00000426711.1:p.Ser512Leu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1262C>T
  hgvsp: ENSP00000421479.2:p.Ser421Leu
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1945C>T
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser723Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-43119520-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119520
    reference: chr 1
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1950G>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2173G>T
  hgvsp: ENSP00000340378.3:p.Ala725Ser
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1540G>T
  hgvsp: ENSP00000375051.4:p.Ala514Ser
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2173G>T
  hgvsp: ENSP00000397035.2:p.Ala725Ser
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1267G>T
  hgvsp: ENSP00000421479.2:p.Ala423Ser
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1540G>T
  hgvsp: ENSP00000426711.1:p.Ala514Ser
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2173G>T
  hgvsp: ENSP00000339280.4:p.Ala725Ser
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala725Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

1-43119526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119526
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119526
    reference: chr 1
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1546C>T
  hgvsp: ENSP00000426711.1:p.Leu516Phe
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2179C>T
  hgvsp: ENSP00000397035.2:p.Leu727Phe
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2179C>T
  hgvsp: ENSP00000340378.3:p.Leu727Phe
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1956C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1273C>T
  hgvsp: ENSP00000421479.2:p.Leu425Phe
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2179C>T
  hgvsp: ENSP00000339280.4:p.Leu727Phe
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1546C>T
  hgvsp: ENSP00000375051.4:p.Leu516Phe
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu727Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-43119529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119529
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119529
    reference: chr 1
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1549C>T
  hgvsp: ENSP00000426711.1:p.Gln517Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1549C>T
  hgvsp: ENSP00000375051.4:p.Gln517Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1959C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1276C>T
  hgvsp: ENSP00000421479.2:p.Gln426Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2182C>T
  hgvsp: ENSP00000339280.4:p.Gln728Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2182C>T
  hgvsp: ENSP00000340378.3:p.Gln728Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2182C>T
  hgvsp: ENSP00000397035.2:p.Gln728Ter
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln728Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-43119540-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119540
    reference: chr 1
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1287A>G
  hgvsp: ENST00000477155.1:c.1287A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1560A>G
  hgvsp: ENST00000507855.1:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*1970A>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1560A>G
  hgvsp: ENST00000390640.4:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2193A>G
  hgvsp: ENST00000340612.4:c.2193A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2193A>G
  hgvsp: ENST00000428554.2:c.2193A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2193A>G
  hgvsp: ENST00000342022.4:c.2193A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu731Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

1-43119570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119570
    reference: chr 1
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1317T>C
  hgvsp: ENST00000477155.1:c.1317T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1590T>C
  hgvsp: ENST00000390640.4:c.1590T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2000T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2223T>C
  hgvsp: ENST00000342022.4:c.2223T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2223T>C
  hgvsp: ENST00000428554.2:c.2223T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1590T>C
  hgvsp: ENST00000507855.1:c.1590T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2223T>C
  hgvsp: ENST00000340612.4:c.2223T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser741Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-43119576-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119576
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119576
    reference: chr 1
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2229G>T
  hgvsp: ENSP00000339280.4:p.Lys743Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2006G>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1596G>T
  hgvsp: ENSP00000375051.4:p.Lys532Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1323G>T
  hgvsp: ENSP00000421479.2:p.Lys441Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1596G>T
  hgvsp: ENSP00000426711.1:p.Lys532Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2229G>T
  hgvsp: ENSP00000340378.3:p.Lys743Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2229G>T
  hgvsp: ENSP00000397035.2:p.Lys743Asn
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys743Asn
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-43119602-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119602
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2255T>C
  hgvsp: ENSP00000397035.2:p.Leu752Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2255T>C
  hgvsp: ENSP00000340378.3:p.Leu752Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1622T>C
  hgvsp: ENSP00000375051.4:p.Leu541Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1622T>C
  hgvsp: ENSP00000426711.1:p.Leu541Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2255T>C
  hgvsp: ENSP00000339280.4:p.Leu752Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2032T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1349T>C
  hgvsp: ENSP00000421479.2:p.Leu450Pro
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu752Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-43119603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119603
    reference: chr 1
allele count: 184
allele frequency: 1.516600178035673e-3
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1623T>C
  hgvsp: ENST00000390640.4:c.1623T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1350T>C
  hgvsp: ENST00000477155.1:c.1350T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2033T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2256T>C
  hgvsp: ENST00000340612.4:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1623T>C
  hgvsp: ENST00000507855.1:c.1623T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2256T>C
  hgvsp: ENST00000428554.2:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2256T>C
  hgvsp: ENST00000342022.4:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 22746
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47006
  bin: 6.25e1
  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
hgvs: p.Leu752Leu
num of homozygotes: 2
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-43119609-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119609
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2262T>A
  hgvsp: ENSP00000340378.3:p.Cys754Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2039T>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1356T>A
  hgvsp: ENSP00000421479.2:p.Cys452Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1629T>A
  hgvsp: ENSP00000375051.4:p.Cys543Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2262T>A
  hgvsp: ENSP00000397035.2:p.Cys754Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2262T>A
  hgvsp: ENSP00000339280.4:p.Cys754Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1629T>A
  hgvsp: ENSP00000426711.1:p.Cys543Ter
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys754Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-43119611-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119611
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119611
    reference: chr 1
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2264C>G
  hgvsp: ENSP00000397035.2:p.Ser755Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1358C>G
  hgvsp: ENSP00000421479.2:p.Ser453Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2264C>G
  hgvsp: ENSP00000340378.3:p.Ser755Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2041C>G
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2264C>G
  hgvsp: ENSP00000339280.4:p.Ser755Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1631C>G
  hgvsp: ENSP00000426711.1:p.Ser544Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1631C>G
  hgvsp: ENSP00000375051.4:p.Ser544Ter
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser755Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-43119625-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119625
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119625
    reference: chr 1
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1372G>C
  hgvsp: ENSP00000421479.2:p.Ala458Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1645G>C
  hgvsp: ENSP00000426711.1:p.Ala549Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2278G>C
  hgvsp: ENSP00000339280.4:p.Ala760Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2278G>C
  hgvsp: ENSP00000340378.3:p.Ala760Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1645G>C
  hgvsp: ENSP00000375051.4:p.Ala549Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2278G>C
  hgvsp: ENSP00000397035.2:p.Ala760Pro
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2055G>C
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala760Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-43119630-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119630
    reference: chr 1
allele count: 306
allele frequency: 2.523170289257561e-3
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2283A>C
  hgvsp: ENST00000428554.2:c.2283A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2283A>C
  hgvsp: ENST00000342022.4:c.2283A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2283A>C
  hgvsp: ENST00000340612.4:c.2283A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1377A>C
  hgvsp: ENST00000477155.1:c.1377A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1650A>C
  hgvsp: ENST00000390640.4:c.1650A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2060A>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1650A>C
  hgvsp: ENST00000507855.1:c.1650A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 27621
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 22829
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly761Gly
num of homozygotes: 2
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

1-43119657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119657
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119657
    reference: chr 1
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2310G>A
  hgvsp: ENST00000340612.4:c.2310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1677G>A
  hgvsp: ENST00000390640.4:c.1677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2310G>A
  hgvsp: ENST00000428554.2:c.2310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2087G>A
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1677G>A
  hgvsp: ENST00000507855.1:c.1677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1404G>A
  hgvsp: ENST00000477155.1:c.1404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2310G>A
  hgvsp: ENST00000342022.4:c.2310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu770Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

1-43119658-A-ACACATG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119664
    reference: chr 1
allele count: 2
allele frequency: 1.651609493451368e-5
allele num: 121094
alternate allele: ACACATG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1406_1411dupCACATG
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1679_1684dupCACATG
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2312_2317dupCACATG
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2312_2317dupCACATG
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1679_1684dupCACATG
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2312_2317dupCACATG
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22949
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His772_Gly773insAlaHis
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-43119661-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119661
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119661
    reference: chr 1
allele count: 5428
allele frequency: 4.485134934144205e-2
allele num: 121022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1408C>A
  hgvsp: ENSP00000421479.2:p.His470Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2314C>A
  hgvsp: ENSP00000340378.3:p.His772Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1681C>A
  hgvsp: ENSP00000426711.1:p.His561Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2314C>A
  hgvsp: ENSP00000397035.2:p.His772Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1681C>A
  hgvsp: ENSP00000375051.4:p.His561Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2314C>A
  hgvsp: ENSP00000339280.4:p.His772Asn
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2091C>A
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 355
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 719
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 25453
  bin: 2.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 21810
  bin: 2.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 484
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 444
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 481
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 372
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 3.25e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 318
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44930
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5140
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His772Asn
num of homozygotes: 222
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

1-43119662-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119662
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119662
    reference: chr 1
allele count: 6
allele frequency: 4.959907415061585e-5
allele num: 120970
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2315A>G
  hgvsp: ENSP00000397035.2:p.His772Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2315A>G
  hgvsp: ENSP00000339280.4:p.His772Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1682A>G
  hgvsp: ENSP00000426711.1:p.His561Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1409A>G
  hgvsp: ENSP00000421479.2:p.His470Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2315A>G
  hgvsp: ENSP00000340378.3:p.His772Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1682A>G
  hgvsp: ENSP00000375051.4:p.His561Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2092A>G
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48693
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His772Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-43119664-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119664
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119664
    reference: chr 1
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2317G>C
  hgvsp: ENSP00000397035.2:p.Gly773Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2094G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1684G>C
  hgvsp: ENSP00000426711.1:p.Gly562Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2317G>C
  hgvsp: ENSP00000340378.3:p.Gly773Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2317G>C
  hgvsp: ENSP00000339280.4:p.Gly773Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1684G>C
  hgvsp: ENSP00000375051.4:p.Gly562Arg
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1411G>C
  hgvsp: ENSP00000421479.2:p.Gly471Arg
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly773Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

1-43119676-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119676
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119676
    reference: chr 1
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2329C>T
  hgvsp: ENSP00000340378.3:p.Gln777Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2329C>T
  hgvsp: ENSP00000339280.4:p.Gln777Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1696C>T
  hgvsp: ENSP00000426711.1:p.Gln566Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1696C>T
  hgvsp: ENSP00000375051.4:p.Gln566Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2329C>T
  hgvsp: ENSP00000397035.2:p.Gln777Ter
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2106C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1423C>T
  hgvsp: ENSP00000421479.2:p.Gln475Ter
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5653
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln777Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

1-43119694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119694
    reference: chr 1
allele count: 1
allele frequency: 8.3760511944249e-6
allele num: 119388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.1714C>T
  hgvsp: ENST00000390640.4:c.1714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2124C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.1441C>T
  hgvsp: ENST00000477155.1:c.1441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.2347C>T
  hgvsp: ENST00000428554.2:c.2347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.1714C>T
  hgvsp: ENST00000507855.1:c.1714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.2347C>T
  hgvsp: ENST00000342022.4:c.2347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.2347C>T
  hgvsp: ENST00000340612.4:c.2347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu783Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-43119706-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119706
    reference: chr 1
allele count: 1
allele frequency: 8.524858487349111e-6
allele num: 117304
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.*7T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.*7T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.*7T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2136T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.*7T>C
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-43119707-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119707
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119707
    reference: chr 1
allele count: 26
allele frequency: 2.224503764544832e-4
allele num: 116880
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.*8G>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2137G>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.*8G>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.*8G>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.*8G>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.*8G>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.*8G>T
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21157
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22417
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

1-43119708-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119708
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119708
    reference: chr 1
allele count: 1
allele frequency: 8.557833841098141e-6
allele num: 116852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.*9G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.*9G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.*9G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.*9G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.*9G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.*9G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2138G>C
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 2.75e1
  variant carriers: 0
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: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-43119717-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119717
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119717
    reference: chr 1
allele count: 5
allele frequency: 4.366202102762933e-5
allele num: 114516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2147G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.*18G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.*18G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.*18G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.*18G>C
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19680
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-43119729-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119729
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119729
    reference: chr 1
allele count: 2
allele frequency: 1.783866709479468e-5
allele num: 112116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.*30A>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.*30A>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.*30A>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.*30A>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.*30A>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.*30A>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2159A>T
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

1-43119733-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119733
    reference: chr 1
allele count: 10
allele frequency: 8.986825314089545e-5
allele num: 111274
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.*34G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.*34G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.*34G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2163G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.*34G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.*34G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.*34G>C
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11616
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18062
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-43119746-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119746
    reference: chr 1
allele count: 2
allele frequency: 1.899876508026978e-5
allele num: 105270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.*47G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.*47G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.*47G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.*47G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.*47G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2176G>C
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.*47G>C
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10355
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

1-43119748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43119748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43119748
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 104498
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000397035
  ensembl transcript: ENST00000428554
  gene symbol: CCDC30
  hgvsc: ENST00000428554.2:c.*49C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000375051
  ensembl transcript: ENST00000390640
  gene symbol: CCDC30
  hgvsc: ENST00000390640.4:c.*49C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000340378
  ensembl transcript: ENST00000340612
  gene symbol: CCDC30
  hgvsc: ENST00000340612.4:c.*49C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000339280
  ensembl transcript: ENST00000342022
  gene symbol: CCDC30
  hgvsc: ENST00000342022.4:c.*49C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000426711
  ensembl transcript: ENST00000507855
  gene symbol: CCDC30
  hgvsc: ENST00000507855.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000424339
  ensembl transcript: ENST00000471390
  gene symbol: CCDC30
  hgvsc: ENST00000471390.1:c.*2178C>T
  variant of: http://identifiers.org/hgnc/26103
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186409
  ensembl protein: ENSP00000421479
  ensembl transcript: ENST00000477155
  gene symbol: CCDC30
  hgvsc: ENST00000477155.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/26103
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5083
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
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: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff

1-43124068-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124068
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124068
    reference: chr 1
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: G
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34324
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 2.997691777331455e-5
  allele num: 66718
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10394
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

1-43124077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124077
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124077
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
canonical: true
consequence: upstream gene
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4202
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
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genotype quality: GenotypeQuality
  all individuals: 4975
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genotype quality: GenotypeQuality
  all individuals: 2381
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
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genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 9.25e1
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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: 3715
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 34306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.619084263178146e-5
  allele num: 10396
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-43124084-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124084
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124084
    reference: chr 1
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: G
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
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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: 5508
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
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genotype depth: GenotypeDepth
  all individuals: 8942
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1468
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2586
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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: 17
  bin: 4.25e1
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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
  all individuals: 3894
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genotype quality: GenotypeQuality
  all individuals: 26
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10398
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 2.997601918465228e-5
  allele num: 66720
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-43124086-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124086
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124086
    reference: chr 1
allele count: 18
allele frequency: 1.482921685258111e-4
allele num: 121382
alternate allele: G
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5333
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
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genotype depth: GenotypeDepth
  all individuals: 9626
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
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genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2068
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 601
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genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3974
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5523
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genotype depth: GenotypeDepth
  all individuals: 385
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genotype quality: GenotypeQuality
  all individuals: 2398
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
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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: 4214
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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: 3900
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 34304
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3771
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genotype quality: GenotypeQuality
  all individuals: 2585
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num of homozygotes: 1
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 15
  allele frequency: 2.248066662670104e-4
  allele num: 66724
  num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 1.923446816695518e-4
  allele num: 10398
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-43124086-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124086
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124086
    reference: chr 1
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: T
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34304
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66724
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10398
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 1.816860465116279e-4
  allele num: 16512
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-43124089-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124089
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  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: 2399
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498756032493031e-5
  allele num: 66722
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-43124091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124091
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124091
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
canonical: true
consequence: upstream gene
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-43124095-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124095
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124095
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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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: 4215
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498576352465158e-5
  allele num: 66730
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-43124107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124107
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124107
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000306614
  ensembl transcript: ENST00000304979
  gene symbol: PPIH
  hgvsc: ENST00000304979.3:c.-11G>A
  variant of: http://identifiers.org/hgnc/14651
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5263
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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
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  bin: 7.75e1
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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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  bin: 4.25e1
  variant carriers: 0
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)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66724
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-43124111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124111
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124111
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000306614
  ensembl transcript: ENST00000304979
  gene symbol: PPIH
  hgvsc: ENST00000304979.3:c.-7C>T
  variant of: http://identifiers.org/hgnc/14651
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
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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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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 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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
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population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.638562543192812e-5
  allele num: 11576
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-43124119-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124119
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124119
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000306614
  ensembl transcript: ENST00000304979
  gene symbol: PPIH
  hgvsc: ENST00000304979.3:c.2T>C
  hgvsp: ENSP00000306614.3:p.Met1?
  variant of: http://identifiers.org/hgnc/14651
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 1
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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genotype depth: GenotypeDepth
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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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hgvs: p.Met1?
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
  type: Population
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  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-43124122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124122
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124122
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000306614
  ensembl transcript: ENST00000304979
  gene symbol: PPIH
  hgvsc: ENST00000304979.3:c.5C>T
  hgvsp: ENSP00000306614.3:p.Ala2Val
  variant of: http://identifiers.org/hgnc/14651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 2.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ala2Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66732
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

1-43124125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124125
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124125
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000306614
  ensembl transcript: ENST00000304979
  gene symbol: PPIH
  hgvsc: ENST00000304979.3:c.8T>C
  hgvsp: ENSP00000306614.3:p.Val3Ala
  variant of: http://identifiers.org/hgnc/14651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Val3Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-43124133-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124133
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000306614
  ensembl transcript: ENST00000304979
  gene symbol: PPIH
  hgvsc: ENST00000304979.3:c.16T>A
  hgvsp: ENSP00000306614.3:p.Ser6Thr
  variant of: http://identifiers.org/hgnc/14651
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000361630
  ensembl transcript: ENST00000372550
  gene symbol: PPIH
  hgvsc: ENST00000372550.1:c.-233T>A
  variant of: http://identifiers.org/hgnc/14651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34301
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser6Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-43124141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124141
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000306614
  ensembl transcript: ENST00000304979
  gene symbol: PPIH
  hgvsc: ENST00000304979.3:c.24T>C
  hgvsp: ENST00000304979.3:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14651
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000361630
  ensembl transcript: ENST00000372550
  gene symbol: PPIH
  hgvsc: ENST00000372550.1:c.-225T>C
  variant of: http://identifiers.org/hgnc/14651
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34301
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro8Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

1-43124151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43124151
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43124151
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000361630
  ensembl transcript: ENST00000372550
  gene symbol: PPIH
  hgvsc: ENST00000372550.1:c.-215G>A
  variant of: http://identifiers.org/hgnc/14651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171960
  ensembl protein: ENSP00000306614
  ensembl transcript: ENST00000304979
  gene symbol: PPIH
  hgvsc: ENST00000304979.3:c.34G>A
  hgvsp: ENSP00000306614.3:p.Val12Met
  variant of: http://identifiers.org/hgnc/14651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34300
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val12Met
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: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum

GenotypeQuality
all individuals: 702
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 789
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.93e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.10086e5

VQSLOD
type: SiteQuality
SIO_000300: -2.679e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 8.0e0

GenotypeQuality
all individuals: 622
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.363140676117775e-4
allele num: 7336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.077e0

QD
type: SiteQuality
SIO_000300: 1.454e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.240000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.495e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

DP
type: SiteQuality
SIO_000300: 3.49853e5

GenotypeQuality
all individuals: 957
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
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African
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allele frequency: 3.9032006245121e-4
allele num: 2562
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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SIO_000300: -1.43e-1

FS
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DP
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InbreedingCoeff
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SIO_000300: -6.710000000000001e-2

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.544306143249838e-5
allele num: 64754
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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DP
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VQSLOD
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SIO_000300: -1.468e0

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

European (Non-Finnish)
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allele frequency: 1.537704514700455e-5
allele num: 65032
num of homozygotes: 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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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: 3.03e0

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 9.906875371507826e-5
allele num: 10094
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -2.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.528e0

QD
type: SiteQuality
SIO_000300: 1.007e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
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allele count: 1
allele frequency: 9.850275807722617e-5
allele num: 10152
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.19e-2

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 894
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.054e1

MQRankSum
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.274e0

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.096e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.506669871409686e-5
allele num: 66568
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.091617933723197e-5
allele num: 16416
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Latino
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 66584
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Latino
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Other
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Latino
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11552
num of homozygotes: 0

Other
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European (Non-Finnish)
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African
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South Asian
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East Asian
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European (Finnish)
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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SIO_000300: -1.098e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.081e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

FS
type: SiteQuality
SIO_000300: 2.479e0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.865771e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

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

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006433768264085e-5
allele num: 66524
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 4.372e0

DP
type: SiteQuality
SIO_000300: 1.862128e6

GenotypeQuality
all individuals: 1377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1427
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variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66052
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.256256256256256e-5
allele num: 15984
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.305e0

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 1.788773e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.214e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 3988
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517082347229808e-5
allele num: 65916
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.439e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.791749e6

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e0

QD
type: SiteQuality
SIO_000300: 1.448e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.45577792123951e-5
allele num: 15490
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64532
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.06e1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.467179e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.737782042155437e-5
allele num: 64618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

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

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.471304e6

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 1.505e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546886118243975e-5
allele num: 64646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15546
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2323e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.439979392065946e-5
allele num: 15528
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.208e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.483612e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15666
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542210295795935e-5
allele num: 64842
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.151e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQ
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 144
bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.938382031405287e-5
allele num: 10062
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65992
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.163e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 8.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

QD
type: SiteQuality
SIO_000300: 1.243e1

DP
type: SiteQuality
SIO_000300: 1.572275e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

GenotypeQuality
all individuals: 662
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.985308715505261e-4
allele num: 10074
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.573715e6

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

MQ
type: SiteQuality
SIO_000300: 5.787e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.55e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

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

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.587e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

DP
type: SiteQuality
SIO_000300: 1.580853e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 8.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.787e0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.044e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 1.582402e6

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

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

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

GenotypeQuality
all individuals: 566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46685
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5798
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.817e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

MQRankSum
type: SiteQuality
SIO_000300: -5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.584868e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.99e0

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5808
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 969
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 9.75e1
variant carriers: 16

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.257880001204203e-4
allele num: 66434
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.272e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

FS
type: SiteQuality
SIO_000300: 2.032e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 1.585841e6

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 295
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GenotypeQuality
all individuals: 455
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GenotypeQuality
all individuals: 1528
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 969
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variant carriers: 0

GenotypeQuality
all individuals: 566
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variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

FS
type: SiteQuality
SIO_000300: 2.032e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 1.585841e6

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

GenotypeQuality
all individuals: 5833
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 455
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2460
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005891547432969e-5
allele num: 66536
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.58781e6

FS
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 147
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GenotypeQuality
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GenotypeQuality
all individuals: 1542
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
all individuals: 5849
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GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 8.94e0

VQSLOD
type: SiteQuality
SIO_000300: -7.23e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

FS
type: SiteQuality
SIO_000300: 1.781e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.011e0

DP
type: SiteQuality
SIO_000300: 1.589947e6

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 571
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2461
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

DP
type: SiteQuality
SIO_000300: 1.590826e6

ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 1.512e0

MQRankSum
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QD
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.714e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

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

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.591904e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
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FS
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QD
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VQSLOD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.47e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
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South Asian
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allele frequency: 0.0e0
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African
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.592626e6

VQSLOD
type: SiteQuality
SIO_000300: -1.391e0

InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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: 1.9e0

FS
type: SiteQuality
SIO_000300: 4.125e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

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

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

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

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

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

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
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.713e0

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.593607e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.567e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

Other
type: Population
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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
allele num: 8652
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.593635e6

ReadPosRankSum
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QD
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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East Asian
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

Other
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Latino
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European (Non-Finnish)
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allele num: 66700
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European (Finnish)
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South Asian
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East Asian
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allele num: 8648
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Latino
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Other
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European (Finnish)
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South Asian
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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Other
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South Asian
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African
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European (Finnish)
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Latino
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allele frequency: 8.646031471554557e-5
allele num: 11566
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East Asian
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ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
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DP
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5836
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.594191e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.138e0

FS
type: SiteQuality
SIO_000300: 1.279e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.59e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.257e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

QD
type: SiteQuality
SIO_000300: 1.004e1

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 549
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 943
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2709
bin: 9.75e1
variant carriers: 304

GenotypeQuality
all individuals: 1489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5797
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 72
allele frequency: 4.363636363636364e-3
allele num: 16500
num of homozygotes: 1

Latino
type: Population
allele count: 10
allele frequency: 8.647526807333103e-4
allele num: 11564
num of homozygotes: 1

African
type: Population
allele count: 7
allele frequency: 6.746337702390131e-4
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 208
allele frequency: 3.120031200312003e-3
allele num: 66666
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.60809e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.04e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

QD
type: SiteQuality
SIO_000300: 1.392e1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5798
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004807692307692e-5
allele num: 66560
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

DP
type: SiteQuality
SIO_000300: 1.59206e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

FS
type: SiteQuality
SIO_000300: 8.381e0

QD
type: SiteQuality
SIO_000300: 1.035e1

VQSLOD
type: SiteQuality
SIO_000300: -1.62e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46943
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1486
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213886865744113e-4
allele num: 16476
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.69e0

FS
type: SiteQuality
SIO_000300: 7.247e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: -4.45e0

DP
type: SiteQuality
SIO_000300: 1.591841e6

MQ
type: SiteQuality
SIO_000300: 5.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 309
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6668
bin: 9.75e1
variant carriers: 5172

GenotypeQuality
all individuals: 1047
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 8

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

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

South Asian
type: Population
allele count: 922
allele frequency: 5.597377367654201e-2
allele num: 16472
num of homozygotes: 26

East Asian
type: Population
allele count: 13
allele frequency: 1.505675237433403e-3
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2286
allele frequency: 3.437490601786412e-2
allele num: 66502
num of homozygotes: 43

African
type: Population
allele count: 1683
allele frequency: 1.626086956521739e-1
allele num: 10350
num of homozygotes: 142

European (Finnish)
type: Population
allele count: 145
allele frequency: 2.192982456140351e-2
allele num: 6612
num of homozygotes: 1

Latino
type: Population
allele count: 345
allele frequency: 2.98753030827849e-2
allele num: 11548
num of homozygotes: 10

Other
type: Population
allele count: 34
allele frequency: 3.761061946902655e-2
allele num: 904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.779476e6

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.93e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.747e0

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

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.016847172081829e-5
allele num: 66480
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.512e1

FS
type: SiteQuality
SIO_000300: 3.457e0

DP
type: SiteQuality
SIO_000300: 1.588887e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5712
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

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

GenotypeQuality
all individuals: 48700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.86e1

FS
type: SiteQuality
SIO_000300: 1.688e0

VQSLOD
type: SiteQuality
SIO_000300: -1.84e0

DP
type: SiteQuality
SIO_000300: 1.588501e6

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

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48471
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.146e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.583079e6

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

GenotypeQuality
all individuals: 595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528537800739812e-5
allele num: 65422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.192e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.903e0

DP
type: SiteQuality
SIO_000300: 1.558285e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

QD
type: SiteQuality
SIO_000300: 2.945e1

GenotypeQuality
all individuals: 815
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5197
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.275100401606425e-5
allele num: 15936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.707e0

QD
type: SiteQuality
SIO_000300: 1.042e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.093e0

DP
type: SiteQuality
SIO_000300: 1.509667e6

MQ
type: SiteQuality
SIO_000300: 5.695e1

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 1121
bin: 7.25e1
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GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5327
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.592739542003812e-4
allele num: 64018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.001803245842517e-4
allele num: 9982
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.304375236414071e-5
allele num: 15862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

DP
type: SiteQuality
SIO_000300: 1.495416e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.252e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

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

GenotypeQuality
all individuals: 150
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 307
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GenotypeQuality
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 1813
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.305170239596469e-5
allele num: 15860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.142e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.643e1

DP
type: SiteQuality
SIO_000300: 1.494426e6

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
SIO_000300: 1.232e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 982
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
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GenotypeQuality
all individuals: 2580
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GenotypeQuality
all individuals: 248
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GenotypeQuality
all individuals: 1814
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4377
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GenotypeQuality
all individuals: 919
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GenotypeQuality
all individuals: 34680
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variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.933488012374323e-4
allele num: 15516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.190505056950515e-5
allele num: 62686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.885e0

QD
type: SiteQuality
SIO_000300: 1.466e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 1.397739e6

GenotypeQuality
all individuals: 4256
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variant carriers: 0

GenotypeQuality
all individuals: 1807
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GenotypeQuality
all individuals: 12998
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GenotypeQuality
all individuals: 6213
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GenotypeQuality
all individuals: 805
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 763
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GenotypeQuality
all individuals: 2809
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GenotypeQuality
all individuals: 236
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GenotypeQuality
all individuals: 781
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.263707571801566e-5
allele num: 61280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.814e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

DP
type: SiteQuality
SIO_000300: 1.233861e6

GenotypeQuality
all individuals: 2589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
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variant carriers: 0

GenotypeQuality
all individuals: 458
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GenotypeQuality
all individuals: 389
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GenotypeQuality
all individuals: 13210
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GenotypeQuality
all individuals: 18986
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GenotypeQuality
all individuals: 487
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GenotypeQuality
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GenotypeQuality
all individuals: 7334
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GenotypeQuality
all individuals: 1111
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15062
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.833516685001834e-4
allele num: 10908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.315270288044193e-4
allele num: 60824
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 1.024e0

MQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 1.461e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.194229e6

GenotypeQuality
all individuals: 3283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
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GenotypeQuality
all individuals: 9010
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 220
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GenotypeQuality
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GenotypeQuality
all individuals: 1803
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variant carriers: 2

GenotypeQuality
all individuals: 237
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57390
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.216803369541122e-4
allele num: 9022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14220
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 1.084761e6

QD
type: SiteQuality
SIO_000300: 1.764e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -1.617e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 706
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variant carriers: 0

GenotypeQuality
all individuals: 315
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variant carriers: 0

GenotypeQuality
all individuals: 2287
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GenotypeQuality
all individuals: 7951
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GenotypeQuality
all individuals: 257
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GenotypeQuality
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GenotypeQuality
all individuals: 9025
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GenotypeQuality
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GenotypeQuality
all individuals: 1539
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GenotypeQuality
all individuals: 4875
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.239e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

MQ
type: SiteQuality
SIO_000300: 5.395e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.080443e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

DP
type: SiteQuality
SIO_000300: 2.750783e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 2.105e0

MQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.673e1

VQSLOD
type: SiteQuality
SIO_000300: -2.764e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

FS
type: SiteQuality
SIO_000300: 1.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.66e0

DP
type: SiteQuality
SIO_000300: 2.753758e6

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.692e0

QD
type: SiteQuality
SIO_000300: 2.106e1

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

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

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

FS
type: SiteQuality
SIO_000300: 3.875e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

DP
type: SiteQuality
SIO_000300: 2.755855e6

VQSLOD
type: SiteQuality
SIO_000300: -4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.499e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.06e-2

FS
type: SiteQuality
SIO_000300: 7.35e-1

DP
type: SiteQuality
SIO_000300: 2.756259e6

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.188e0

QD
type: SiteQuality
SIO_000300: 1.329e1

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

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

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

FS
type: SiteQuality
SIO_000300: 7.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.756259e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.188e0

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.088e1

FS
type: SiteQuality
SIO_000300: 1.048e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.08e-1

DP
type: SiteQuality
SIO_000300: 2.75636e6

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

VQSLOD
type: SiteQuality
SIO_000300: -3.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.366e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.865e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e0

FS
type: SiteQuality
SIO_000300: 1.2961e1

DP
type: SiteQuality
SIO_000300: 2.75657e6

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.332e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.254e0

QD
type: SiteQuality
SIO_000300: 1.219e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.756763e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

DP
type: SiteQuality
SIO_000300: 2.75726e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 3.486e0

QD
type: SiteQuality
SIO_000300: 1.563e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

East Asian
type: Population
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: 66732
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.913e0

QD
type: SiteQuality
SIO_000300: 1.309e1

DP
type: SiteQuality
SIO_000300: 2.757241e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -1.956e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.198e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.77e-1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.13e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 2.868e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

DP
type: SiteQuality
SIO_000300: 2.757314e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

VQSLOD
type: SiteQuality
SIO_000300: -2.544e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.397e1

DP
type: SiteQuality
SIO_000300: 2.757528e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.053e0

FS
type: SiteQuality
SIO_000300: 1.8565e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.797e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 2.665e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e-1

DP
type: SiteQuality
SIO_000300: 2.757425e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.108e1

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.08e-1

DP
type: SiteQuality
SIO_000300: 2.757501e6

MQ
type: SiteQuality
SIO_000300: 5.867e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.453e0

QD
type: SiteQuality
SIO_000300: 1.354e1

VQSLOD
type: SiteQuality
SIO_000300: -1.642e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.283e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.757547e6

MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

FS
type: SiteQuality
SIO_000300: 4.875e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.874e0