X-48920040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920040
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920040
    reference: chr 0
allele count: 2
allele frequency: 2.4000096000384e-5
allele num: 83333
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.91C>T
  hgvsp: ENSP00000470294.1:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.196C>T
  hgvsp: ENSP00000474071.1:p.Arg66Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.91C>T
  hgvsp: ENSP00000365577.3:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.490C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.173C>T
  hgvsp: ENSP00000474713.1:p.Ala58Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.55C>T
  hgvsp: ENSP00000443351.1:p.Arg19Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.91C>T
  hgvsp: ENSP00000416445.2:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.91C>T
  hgvsp: ENSP00000474761.1:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10353
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg31Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

X-48920041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920041
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920041
    reference: chr 0
allele count: 36
allele frequency: 4.337349397590361e-4
allele num: 83000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.174G>A
  hgvsp: ENST00000603906.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.56G>A
  hgvsp: ENSP00000443351.1:p.Arg19His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.491G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.92G>A
  hgvsp: ENSP00000365577.3:p.Arg31His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.92G>A
  hgvsp: ENSP00000416445.2:p.Arg31His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.197G>A
  hgvsp: ENSP00000474071.1:p.Arg66His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.92G>A
  hgvsp: ENSP00000474761.1:p.Arg31His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.92G>A
  hgvsp: ENSP00000470294.1:p.Arg31His
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25403
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12415
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 2
hgvs: p.Arg31His
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

X-48920045-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920045
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920045
    reference: chr 0
allele count: 1
allele frequency: 1.214801137053864e-5
allele num: 82318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.178G>C
  hgvsp: ENSP00000474713.1:p.Ala60Pro
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.96G>C
  hgvsp: ENST00000422185.2:c.96G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.60G>C
  hgvsp: ENST00000536628.2:c.60G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.96G>C
  hgvsp: ENST00000376396.3:c.96G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.96G>C
  hgvsp: ENST00000496529.2:c.96G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.495G>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.201G>C
  hgvsp: ENST00000603986.1:c.201G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.96G>C
  hgvsp: ENST00000597275.1:c.96G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24612
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala60Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

X-48920046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920046
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920046
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 82240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.179C>T
  hgvsp: ENSP00000474713.1:p.Ala60Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.496C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.97C>T
  hgvsp: ENSP00000416445.2:p.Arg33Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.202C>T
  hgvsp: ENSP00000474071.1:p.Arg68Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.97C>T
  hgvsp: ENSP00000365577.3:p.Arg33Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.61C>T
  hgvsp: ENSP00000443351.1:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.97C>T
  hgvsp: ENSP00000474761.1:p.Arg33Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.97C>T
  hgvsp: ENSP00000470294.1:p.Arg33Trp
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Arg33Trp
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

X-48920047-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920047
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920047
    reference: chr 0
allele count: 2
allele frequency: 2.437448965912276e-5
allele num: 82053
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.98G>T
  hgvsp: ENSP00000365577.3:p.Arg33Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.497G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.98G>T
  hgvsp: ENSP00000416445.2:p.Arg33Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.62G>T
  hgvsp: ENSP00000443351.1:p.Arg21Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.98G>T
  hgvsp: ENSP00000470294.1:p.Arg33Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.180G>T
  hgvsp: ENST00000603906.1:c.180G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.203G>T
  hgvsp: ENSP00000474071.1:p.Arg68Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.98G>T
  hgvsp: ENSP00000474761.1:p.Arg33Leu
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12124
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg33Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

X-48920048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920048
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920048
    reference: chr 0
allele count: 1
allele frequency: 1.226437077645731e-5
allele num: 81537
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.99G>A
  hgvsp: ENST00000496529.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.99G>A
  hgvsp: ENST00000422185.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.63G>A
  hgvsp: ENST00000536628.2:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.204G>A
  hgvsp: ENST00000603986.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.181G>A
  hgvsp: ENSP00000474713.1:p.Gly61Arg
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.498G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.99G>A
  hgvsp: ENST00000597275.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.99G>A
  hgvsp: ENST00000376396.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly61Arg
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-48920050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920050
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920050
    reference: chr 0
allele count: 2
allele frequency: 2.458875310433008e-5
allele num: 81338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.500G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.101G>A
  hgvsp: ENSP00000470294.1:p.Gly34Glu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.101G>A
  hgvsp: ENSP00000474761.1:p.Gly34Glu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.101G>A
  hgvsp: ENSP00000365577.3:p.Gly34Glu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.65G>A
  hgvsp: ENSP00000443351.1:p.Gly22Glu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.206G>A
  hgvsp: ENSP00000474071.1:p.Gly69Glu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.101G>A
  hgvsp: ENSP00000416445.2:p.Gly34Glu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.183G>A
  hgvsp: ENST00000603906.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly34Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

X-48920050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920050
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920050
    reference: chr 0
allele count: 2
allele frequency: 2.458875310433008e-5
allele num: 81338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.183G>T
  hgvsp: ENST00000603906.1:c.183G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.101G>T
  hgvsp: ENSP00000474761.1:p.Gly34Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.65G>T
  hgvsp: ENSP00000443351.1:p.Gly22Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.101G>T
  hgvsp: ENSP00000470294.1:p.Gly34Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.500G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.101G>T
  hgvsp: ENSP00000416445.2:p.Gly34Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.101G>T
  hgvsp: ENSP00000365577.3:p.Gly34Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.206G>T
  hgvsp: ENSP00000474071.1:p.Gly69Val
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly34Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

X-48920051-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920051
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920051
    reference: chr 0
allele count: 1
allele frequency: 1.2330760314681e-5
allele num: 81098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.184G>T
  hgvsp: ENSP00000474713.1:p.Ala62Ser
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.102G>T
  hgvsp: ENST00000376396.3:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.66G>T
  hgvsp: ENST00000536628.2:c.66G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.102G>T
  hgvsp: ENST00000496529.2:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.102G>T
  hgvsp: ENST00000422185.2:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.102G>T
  hgvsp: ENST00000597275.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.207G>T
  hgvsp: ENST00000603986.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.501G>T
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala62Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

X-48920058-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920058
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920058
    reference: chr 0
allele count: 1
allele frequency: 1.290322580645161e-5
allele num: 77500
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.109G>C
  hgvsp: ENSP00000416445.2:p.Asp37His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.73G>C
  hgvsp: ENSP00000443351.1:p.Asp25His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.109G>C
  hgvsp: ENSP00000474761.1:p.Asp37His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.191G>C
  hgvsp: ENSP00000474713.1:p.Ter64SerextTer33
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.109G>C
  hgvsp: ENSP00000365577.3:p.Asp37His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.109G>C
  hgvsp: ENSP00000470294.1:p.Asp37His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.214G>C
  hgvsp: ENSP00000474071.1:p.Asp72His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.508G>C
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ter64SerextTer33
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

X-48920060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920060
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920060
    reference: chr 0
allele count: 5
allele frequency: 6.478278332750288e-5
allele num: 77181
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.111C>T
  hgvsp: ENST00000422185.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.75C>T
  hgvsp: ENST00000536628.2:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.111C>T
  hgvsp: ENST00000597275.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.111C>T
  hgvsp: ENST00000496529.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.216C>T
  hgvsp: ENST00000603986.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.111C>T
  hgvsp: ENST00000376396.3:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.510C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp37Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

X-48920061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920061
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920061
    reference: chr 0
allele count: 2
allele frequency: 2.608888483061792e-5
allele num: 76661
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.112C>T
  hgvsp: ENSP00000416445.2:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.112C>T
  hgvsp: ENSP00000470294.1:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.112C>T
  hgvsp: ENSP00000365577.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.112C>T
  hgvsp: ENSP00000474761.1:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.217C>T
  hgvsp: ENSP00000474071.1:p.Arg73Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.511C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.76C>T
  hgvsp: ENSP00000443351.1:p.Arg26Trp
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5359
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg38Trp
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

X-48920062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920062
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920062
    reference: chr 0
allele count: 1
allele frequency: 1.30582397492818e-5
allele num: 76580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.77G>A
  hgvsp: ENSP00000443351.1:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.113G>A
  hgvsp: ENSP00000474761.1:p.Arg38Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.113G>A
  hgvsp: ENSP00000470294.1:p.Arg38Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.113G>A
  hgvsp: ENSP00000365577.3:p.Arg38Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.218G>A
  hgvsp: ENSP00000474071.1:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.512G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.113G>A
  hgvsp: ENSP00000416445.2:p.Arg38Gln
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg38Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

X-48920068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920068
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920068
    reference: chr 0
allele count: 1
allele frequency: 1.350384184300433e-5
allele num: 74053
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.83G>A
  hgvsp: ENSP00000443351.1:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.518G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.119G>A
  hgvsp: ENSP00000470294.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.119G>A
  hgvsp: ENSP00000365577.3:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.224G>A
  hgvsp: ENSP00000474071.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.119G>A
  hgvsp: ENSP00000416445.2:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.119G>A
  hgvsp: ENSP00000474761.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg40Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

X-48920109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920109
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920109
    reference: chr 0
allele count: 2
allele frequency: 2.962831281572671e-5
allele num: 67503
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.124C>T
  hgvsp: ENSP00000443351.1:p.Arg42Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.160C>T
  hgvsp: ENSP00000416445.2:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.160C>T
  hgvsp: ENSP00000470294.1:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.160C>T
  hgvsp: ENSP00000365577.3:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.265C>T
  hgvsp: ENSP00000474071.1:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.160C>T
  hgvsp: ENSP00000474761.1:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.559C>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14191
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg54Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

X-48920110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920110
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920110
    reference: chr 0
allele count: 1
allele frequency: 1.486701455480725e-5
allele num: 67263
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.161G>A
  hgvsp: ENSP00000416445.2:p.Arg54His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.161G>A
  hgvsp: ENSP00000470294.1:p.Arg54His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.266G>A
  hgvsp: ENSP00000474071.1:p.Arg89His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*51G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.560G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.125G>A
  hgvsp: ENSP00000443351.1:p.Arg42His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.161G>A
  hgvsp: ENSP00000474761.1:p.Arg54His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.161G>A
  hgvsp: ENSP00000365577.3:p.Arg54His
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg54His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

X-48920135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920135
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920135
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 62484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.147+3G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.183+3G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.183+3G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.183+3G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*73+3G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.585G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.288+3G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.183+3G>A
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
hgvs: c.183+3G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

X-48920143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920143
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920143
    reference: chr 0
allele count: 1
allele frequency: 1.64370952365298e-5
allele num: 60838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.183+11G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.147+11G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.593G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.288+11G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*73+11G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.183+11G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.183+11G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.183+11G>A
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-48920147-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920147
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920147
    reference: chr 0
allele count: 1
allele frequency: 1.662703889064397e-5
allele num: 60143
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.597C>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.183+15C>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.183+15C>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*73+15C>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.183+15C>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.183+15C>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.288+15C>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.147+15C>A
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12143
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

X-48920149-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920149
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920149
    reference: chr 0
allele count: 1
allele frequency: 1.679261125104954e-5
allele num: 59550
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.183+17A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.288+17A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.147+17A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.599A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.183+17A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.183+17A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.183+17A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*73+17A>G
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

X-48920159-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920159
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920159
    reference: chr 0
allele count: 1
allele frequency: 1.732561765826952e-5
allele num: 57718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.183+27G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.183+27G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.609G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*73+27G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.288+27G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.147+27G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.183+27G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.183+27G>T
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16453
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

X-48920161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920161
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920161
    reference: chr 0
allele count: 4
allele frequency: 7.034574935809503e-5
allele num: 56862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*73+29C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.611C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.183+29C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.288+29C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.183+29C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.147+29C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.183+29C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.183+29C>T
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17808
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22238
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

X-48920162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920162
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920162
    reference: chr 0
allele count: 1
allele frequency: 1.775316006249112e-5
allele num: 56328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.183+30G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.612G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.288+30G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.183+30G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*73+30G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.147+30G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.183+30G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.183+30G>A
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17566
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5016
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21269
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

X-48920169-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920169
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920169
    reference: chr 0
allele count: 1
allele frequency: 1.815705855651384e-5
allele num: 55075
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.183+37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.619T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*73+37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.288+37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.183+37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.183+37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.147+37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.183+37T>C
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8802
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-48920172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048920172
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048920172
    reference: chr 0
allele count: 1
allele frequency: 1.83452577508714e-5
allele num: 54510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*73+40G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.183+40G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.183+40G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.183+40G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.288+40G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.147+40G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147144
  ensembl transcript: ENST00000482476
  gene symbol: CCDC120
  hgvsc: ENST00000482476.1:n.622G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.183+40G>A
  variant of: http://identifiers.org/hgnc/28910
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17853
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4605
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

X-48921355-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921355
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921355
    reference: chr 0
allele count: 2
allele frequency: 2.579014558537183e-5
allele num: 77549
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.148-37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.289-37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.184-37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.184-37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*74-37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.184-37T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.184-37T>C
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-48921371-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921371
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921371
    reference: chr 0
allele count: 1
allele frequency: 1.281771921504288e-5
allele num: 78017
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.289-21C>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.184-21C>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.184-21C>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.184-21C>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.184-21C>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*74-21C>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.148-21C>G
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20952
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

X-48921387-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921387
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921387
    reference: chr 0
allele count: 1
allele frequency: 1.26579073947495e-5
allele num: 79002
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.184-5A>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*74-5A>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.289-5A>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.184-5A>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.184-5A>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.148-5A>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.184-5A>C
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6964
  bin: 2.25e1
  variant carriers: 0
hgvs: c.184-5A>C
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS

X-48921395-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921395
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921395
    reference: chr 0
allele count: 1
allele frequency: 1.261813731057021e-5
allele num: 79251
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*77C>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.187C>G
  hgvsp: ENSP00000474761.1:p.Leu63Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.187C>G
  hgvsp: ENSP00000365577.3:p.Leu63Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.187C>G
  hgvsp: ENSP00000416445.2:p.Leu63Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.151C>G
  hgvsp: ENSP00000443351.1:p.Leu51Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.292C>G
  hgvsp: ENSP00000474071.1:p.Leu98Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.187C>G
  hgvsp: ENSP00000470294.1:p.Leu63Val
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21634
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu63Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

X-48921413-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921413
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921411
    reference: chr 0
allele count: 1
allele frequency: 1.257561086029754e-5
allele num: 79519
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.206_207delCT
  hgvsp: ENSP00000365577.3:p.Pro69ArgfsTer8
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.311_312delCT
  hgvsp: ENSP00000474071.1:p.Pro104ArgfsTer8
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.170_171delCT
  hgvsp: ENSP00000443351.1:p.Pro57ArgfsTer8
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*96_*97delCT
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.206_207delCT
  hgvsp: ENSP00000416445.2:p.Pro69ArgfsTer8
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.206_207delCT
  hgvsp: ENSP00000470294.1:p.Pro69ArgfsTer8
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.206_207delCT
  hgvsp: ENSP00000474761.1:p.Pro69ArgfsTer8
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro69ArgfsTer8
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: CCT
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

X-48921415-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921415
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921415
    reference: chr 0
allele count: 1
allele frequency: 1.256944619020086e-5
allele num: 79558
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.207T>G
  hgvsp: ENST00000422185.2:c.207T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.207T>G
  hgvsp: ENST00000496529.2:c.207T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.207T>G
  hgvsp: ENST00000376396.3:c.207T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.207T>G
  hgvsp: ENST00000597275.1:c.207T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.171T>G
  hgvsp: ENST00000536628.2:c.171T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.312T>G
  hgvsp: ENST00000603986.1:c.312T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*97T>G
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro69Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

X-48921420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921420
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921420
    reference: chr 0
allele count: 1
allele frequency: 1.26350369574831e-5
allele num: 79145
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.176G>A
  hgvsp: ENSP00000443351.1:p.Cys59Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.212G>A
  hgvsp: ENSP00000470294.1:p.Cys71Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.317G>A
  hgvsp: ENSP00000474071.1:p.Cys106Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.212G>A
  hgvsp: ENSP00000416445.2:p.Cys71Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.212G>A
  hgvsp: ENSP00000474761.1:p.Cys71Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.212G>A
  hgvsp: ENSP00000365577.3:p.Cys71Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*102G>A
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19124
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10034
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys71Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

X-48921433-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921433
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921433
    reference: chr 0
allele count: 3
allele frequency: 3.835679490621763e-5
allele num: 78213
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.225T>C
  hgvsp: ENST00000496529.2:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.225T>C
  hgvsp: ENST00000422185.2:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.225T>C
  hgvsp: ENST00000376396.3:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.225T>C
  hgvsp: ENST00000597275.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*115T>C
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.330T>C
  hgvsp: ENST00000603986.1:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.189T>C
  hgvsp: ENST00000536628.2:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17200
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11965
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro75Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

X-48921441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921441
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921441
    reference: chr 0
allele count: 1
allele frequency: 1.303797963467581e-5
allele num: 76699
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.197G>A
  hgvsp: ENSP00000443351.1:p.Arg66Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.233G>A
  hgvsp: ENSP00000365577.3:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.338G>A
  hgvsp: ENSP00000474071.1:p.Arg113Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*123G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.233G>A
  hgvsp: ENSP00000416445.2:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.233G>A
  hgvsp: ENSP00000474761.1:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.233G>A
  hgvsp: ENSP00000470294.1:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg78Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

X-48921455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921455
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921455
    reference: chr 0
allele count: 8
allele frequency: 1.091018192728364e-4
allele num: 73326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.247C>T
  hgvsp: ENSP00000416445.2:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.247C>T
  hgvsp: ENSP00000365577.3:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.211C>T
  hgvsp: ENSP00000443351.1:p.Arg71Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.352C>T
  hgvsp: ENSP00000474071.1:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.247C>T
  hgvsp: ENSP00000470294.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.247C>T
  hgvsp: ENSP00000474761.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*137C>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
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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: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg83Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-48921458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921458
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921458
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 72852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*140C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.250C>T
  hgvsp: ENSP00000474761.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.214C>T
  hgvsp: ENSP00000443351.1:p.Arg72Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.250C>T
  hgvsp: ENSP00000416445.2:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.250C>T
  hgvsp: ENSP00000365577.3:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.355C>T
  hgvsp: ENSP00000474071.1:p.Arg119Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.250C>T
  hgvsp: ENSP00000470294.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 22345
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg84Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

X-48921461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921461
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921461
    reference: chr 0
allele count: 1
allele frequency: 1.387135703485872e-5
allele num: 72091
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.253C>T
  hgvsp: ENSP00000474761.1:p.Arg85Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.358C>T
  hgvsp: ENSP00000474071.1:p.Arg120Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.253C>T
  hgvsp: ENSP00000470294.1:p.Arg85Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.217C>T
  hgvsp: ENSP00000443351.1:p.Arg73Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.253C>T
  hgvsp: ENSP00000365577.3:p.Arg85Trp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*143C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.253C>T
  hgvsp: ENSP00000416445.2:p.Arg85Trp
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16934
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg85Trp
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

X-48921462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921462
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921462
    reference: chr 0
allele count: 1
allele frequency: 1.383432018150628e-5
allele num: 72284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.254G>A
  hgvsp: ENSP00000416445.2:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.254G>A
  hgvsp: ENSP00000474761.1:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.359G>A
  hgvsp: ENSP00000474071.1:p.Arg120Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*144G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.254G>A
  hgvsp: ENSP00000365577.3:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.254G>A
  hgvsp: ENSP00000470294.1:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.218G>A
  hgvsp: ENSP00000443351.1:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg85Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

X-48921465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921465
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921465
    reference: chr 0
allele count: 1
allele frequency: 1.40453383522009e-5
allele num: 71198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.257C>T
  hgvsp: ENSP00000416445.2:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.257C>T
  hgvsp: ENSP00000365577.3:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.221C>T
  hgvsp: ENSP00000443351.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.257C>T
  hgvsp: ENSP00000470294.1:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.362C>T
  hgvsp: ENSP00000474071.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.257C>T
  hgvsp: ENSP00000474761.1:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*147C>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12287
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18013
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 796
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genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro86Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

X-48921468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921468
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921468
    reference: chr 0
allele count: 1
allele frequency: 1.416470721550186e-5
allele num: 70598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.260C>T
  hgvsp: ENSP00000474761.1:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.260C>T
  hgvsp: ENSP00000365577.3:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.224C>T
  hgvsp: ENSP00000443351.1:p.Pro75Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.260C>T
  hgvsp: ENSP00000416445.2:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.260C>T
  hgvsp: ENSP00000470294.1:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*150C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.365C>T
  hgvsp: ENSP00000474071.1:p.Pro122Leu
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18572
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 252
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro87Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

X-48921469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921469
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921469
    reference: chr 0
allele count: 2
allele frequency: 2.831096766887492e-5
allele num: 70644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.261C>T
  hgvsp: ENST00000597275.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.261C>T
  hgvsp: ENST00000422185.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.225C>T
  hgvsp: ENST00000536628.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.261C>T
  hgvsp: ENST00000496529.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*151C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.366C>T
  hgvsp: ENST00000603986.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.261C>T
  hgvsp: ENST00000376396.3:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro87Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

X-48921476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921476
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921476
    reference: chr 0
allele count: 2
allele frequency: 2.886044531667123e-5
allele num: 69299
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.268C>T
  hgvsp: ENSP00000365577.3:p.Arg90Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*158C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.268C>T
  hgvsp: ENSP00000474761.1:p.Arg90Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.232C>T
  hgvsp: ENSP00000443351.1:p.Arg78Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.268C>T
  hgvsp: ENSP00000416445.2:p.Arg90Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.268C>T
  hgvsp: ENSP00000470294.1:p.Arg90Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.373C>T
  hgvsp: ENSP00000474071.1:p.Arg125Cys
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19826
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg90Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

X-48921477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921477
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921477
    reference: chr 0
allele count: 10
allele frequency: 1.446047950950054e-4
allele num: 69154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.269G>A
  hgvsp: ENSP00000474761.1:p.Arg90His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.269G>A
  hgvsp: ENSP00000470294.1:p.Arg90His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*159G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.374G>A
  hgvsp: ENSP00000474071.1:p.Arg125His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.269G>A
  hgvsp: ENSP00000365577.3:p.Arg90His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.233G>A
  hgvsp: ENSP00000443351.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.269G>A
  hgvsp: ENSP00000416445.2:p.Arg90His
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13866
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11878
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg90His
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

X-48921478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921478
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921478
    reference: chr 0
allele count: 1
allele frequency: 1.451294554742831e-5
allele num: 68904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.375C>T
  hgvsp: ENST00000603986.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.270C>T
  hgvsp: ENST00000422185.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.270C>T
  hgvsp: ENST00000496529.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.234C>T
  hgvsp: ENST00000536628.2:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.270C>T
  hgvsp: ENST00000597275.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.270C>T
  hgvsp: ENST00000376396.3:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11489
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg90Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

X-48921479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921479
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921479
    reference: chr 0
allele count: 1
allele frequency: 1.457131200093256e-5
allele num: 68628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.271G>A
  hgvsp: ENSP00000474761.1:p.Ala91Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.235G>A
  hgvsp: ENSP00000443351.1:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*161G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.376G>A
  hgvsp: ENSP00000474071.1:p.Ala126Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.271G>A
  hgvsp: ENSP00000416445.2:p.Ala91Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.271G>A
  hgvsp: ENSP00000365577.3:p.Ala91Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.271G>A
  hgvsp: ENSP00000470294.1:p.Ala91Thr
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala91Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

X-48921481-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921481
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921481
    reference: chr 0
allele count: 1
allele frequency: 1.464407573915972e-5
allele num: 68287
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.273C>A
  hgvsp: ENST00000496529.2:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.273C>A
  hgvsp: ENST00000597275.1:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.237C>A
  hgvsp: ENST00000536628.2:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.378C>A
  hgvsp: ENST00000603986.1:c.378C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.273C>A
  hgvsp: ENST00000376396.3:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.273C>A
  hgvsp: ENST00000422185.2:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*163C>A
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala91Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

X-48921492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921492
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921492
    reference: chr 0
allele count: 9
allele frequency: 1.361408604102378e-4
allele num: 66108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.284C>T
  hgvsp: ENSP00000474761.1:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.248C>T
  hgvsp: ENSP00000443351.1:p.Pro83Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.389C>T
  hgvsp: ENSP00000474071.1:p.Pro130Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.284C>T
  hgvsp: ENSP00000416445.2:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*174C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.284C>T
  hgvsp: ENSP00000365577.3:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.284C>T
  hgvsp: ENSP00000470294.1:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16165
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 999
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro95Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

X-48921493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921493
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921493
    reference: chr 0
allele count: 4
allele frequency: 6.109295292787977e-5
allele num: 65474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.285G>A
  hgvsp: ENST00000496529.2:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.249G>A
  hgvsp: ENST00000536628.2:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.285G>A
  hgvsp: ENST00000376396.3:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*175G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.390G>A
  hgvsp: ENST00000603986.1:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.285G>A
  hgvsp: ENST00000422185.2:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.285G>A
  hgvsp: ENST00000597275.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16284
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22918
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 963
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro95Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

X-48921494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921494
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921494
    reference: chr 0
allele count: 1
allele frequency: 1.522718966987453e-5
allele num: 65672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.391C>T
  hgvsp: ENSP00000474071.1:p.His131Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.250C>T
  hgvsp: ENSP00000443351.1:p.His84Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.286C>T
  hgvsp: ENSP00000416445.2:p.His96Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.286C>T
  hgvsp: ENSP00000474761.1:p.His96Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.286C>T
  hgvsp: ENSP00000365577.3:p.His96Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.286C>T
  hgvsp: ENSP00000470294.1:p.His96Tyr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*176C>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12446
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His96Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS

X-48921497-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921497
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921497
    reference: chr 0
allele count: 1
allele frequency: 1.53477807109092e-5
allele num: 65156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.253C>T
  hgvsp: ENSP00000443351.1:p.Pro85Ser
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.289C>T
  hgvsp: ENSP00000470294.1:p.Pro97Ser
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*179C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.289C>T
  hgvsp: ENSP00000416445.2:p.Pro97Ser
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.394C>T
  hgvsp: ENSP00000474071.1:p.Pro132Ser
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.289C>T
  hgvsp: ENSP00000474761.1:p.Pro97Ser
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.289C>T
  hgvsp: ENSP00000365577.3:p.Pro97Ser
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro97Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

X-48921510-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921510
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921510
    reference: chr 0
allele count: 1
allele frequency: 1.601101557871816e-5
allele num: 62457
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.302A>G
  hgvsp: ENSP00000365577.3:p.His101Arg
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.302A>G
  hgvsp: ENSP00000474761.1:p.His101Arg
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*192A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.302A>G
  hgvsp: ENSP00000470294.1:p.His101Arg
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.302A>G
  hgvsp: ENSP00000416445.2:p.His101Arg
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.407A>G
  hgvsp: ENSP00000474071.1:p.His136Arg
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.266A>G
  hgvsp: ENSP00000443351.1:p.His89Arg
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10922
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His101Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

X-48921528-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921528
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921528
    reference: chr 0
allele count: 1
allele frequency: 1.754970955230691e-5
allele num: 56981
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.320C>A
  hgvsp: ENSP00000365577.3:p.Ala107Asp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.320C>A
  hgvsp: ENSP00000474761.1:p.Ala107Asp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.320C>A
  hgvsp: ENSP00000416445.2:p.Ala107Asp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.320C>A
  hgvsp: ENSP00000470294.1:p.Ala107Asp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*210C>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.425C>A
  hgvsp: ENSP00000474071.1:p.Ala142Asp
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.284C>A
  hgvsp: ENSP00000443351.1:p.Ala95Asp
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala107Asp
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

X-48921538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921538
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921538
    reference: chr 0
allele count: 1
allele frequency: 1.838167714422264e-5
allele num: 54402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*214+6C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.288+6C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.324+6C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.429+6C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.324+6C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.324+6C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.324+6C>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 5265
  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 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
  all individuals: 134
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
hgvs: c.324+6C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

X-48921560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921560
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921560
    reference: chr 0
allele count: 4
allele frequency: 8.153447889276177e-5
allele num: 49059
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.324+28G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.429+28G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.324+28G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.324+28G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.288+28G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*214+28G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.324+28G>A
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 194
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

X-48921561-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921561
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921561
    reference: chr 0
allele count: 1
allele frequency: 2.072796617195921e-5
allele num: 48244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.324+29G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.429+29G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.324+29G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.324+29G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*214+29G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.288+29G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.324+29G>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

X-48921574-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921574
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921574
    reference: chr 0
allele count: 1
allele frequency: 2.248959856066569e-5
allele num: 44465
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.324+42G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.324+42G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.324+42G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.288+42G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.429+42G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.324+42G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*214+42G>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5300
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

X-48921861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921861
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921861
    reference: chr 0
allele count: 1
allele frequency: 2.048760499897562e-4
allele num: 4881
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.325-40C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.325-40C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.325-40C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*215-40C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.430-40C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.325-40C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.289-40C>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38041
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29935
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

X-48921873-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921873
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921873
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 5221
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.325-28A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.325-28A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.325-28A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.289-28A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.430-28A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.325-28A>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*215-28A>G
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37210
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32091
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

X-48921883-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921883
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921883
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 5769
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.325-18T>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.325-18T>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.289-18T>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.325-18T>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.430-18T>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*215-18T>G
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.325-18T>G
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 34730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13574
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
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genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 53
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

X-48921925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921925
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921925
    reference: chr 0
allele count: 3
allele frequency: 2.870538704430198e-4
allele num: 10451
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.349C>T
  hgvsp: ENSP00000474761.1:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.313C>T
  hgvsp: ENSP00000443351.1:p.Arg105Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.349C>T
  hgvsp: ENSP00000365577.3:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.349C>T
  hgvsp: ENSP00000416445.2:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.454C>T
  hgvsp: ENSP00000474071.1:p.Arg152Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.349C>T
  hgvsp: ENSP00000470294.1:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*239C>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26632
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg117Cys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

X-48921926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921926
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921926
    reference: chr 0
allele count: 1
allele frequency: 9.337068160597572e-5
allele num: 10710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.350G>A
  hgvsp: ENSP00000365577.3:p.Arg117His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.350G>A
  hgvsp: ENSP00000416445.2:p.Arg117His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.350G>A
  hgvsp: ENSP00000474761.1:p.Arg117His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.455G>A
  hgvsp: ENSP00000474071.1:p.Arg152His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.350G>A
  hgvsp: ENSP00000470294.1:p.Arg117His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.314G>A
  hgvsp: ENSP00000443351.1:p.Arg105His
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg117His
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

X-48921926-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921926
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921926
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 10710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.455G>T
  hgvsp: ENSP00000474071.1:p.Arg152Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.350G>T
  hgvsp: ENSP00000470294.1:p.Arg117Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.350G>T
  hgvsp: ENSP00000474761.1:p.Arg117Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.314G>T
  hgvsp: ENSP00000443351.1:p.Arg105Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*240G>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.350G>T
  hgvsp: ENSP00000416445.2:p.Arg117Leu
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.350G>T
  hgvsp: ENSP00000365577.3:p.Arg117Leu
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27597
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg117Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-48921931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921931
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921931
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 11640
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.355G>A
  hgvsp: ENSP00000416445.2:p.Val119Met
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.319G>A
  hgvsp: ENSP00000443351.1:p.Val107Met
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.460G>A
  hgvsp: ENSP00000474071.1:p.Val154Met
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.355G>A
  hgvsp: ENSP00000474761.1:p.Val119Met
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.355G>A
  hgvsp: ENSP00000470294.1:p.Val119Met
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*245G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.355G>A
  hgvsp: ENSP00000365577.3:p.Val119Met
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22527
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27096
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val119Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

X-48921951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921951
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921951
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 11812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.339C>T
  hgvsp: ENST00000536628.2:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.375C>T
  hgvsp: ENST00000496529.2:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.375C>T
  hgvsp: ENST00000376396.3:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*265C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.480C>T
  hgvsp: ENST00000603986.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.375C>T
  hgvsp: ENST00000597275.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.375C>T
  hgvsp: ENST00000422185.2:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19192
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile125Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS

X-48921952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921952
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921952
    reference: chr 0
allele count: 2
allele frequency: 1.642440666830911e-4
allele num: 12177
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.376G>A
  hgvsp: ENSP00000474761.1:p.Ala126Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.376G>A
  hgvsp: ENSP00000416445.2:p.Ala126Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.481G>A
  hgvsp: ENSP00000474071.1:p.Ala161Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*266G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.376G>A
  hgvsp: ENSP00000470294.1:p.Ala126Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.340G>A
  hgvsp: ENSP00000443351.1:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.376G>A
  hgvsp: ENSP00000365577.3:p.Ala126Thr
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25981
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala126Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

X-48921953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921953
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921953
    reference: chr 0
allele count: 1
allele frequency: 8.252186829509821e-5
allele num: 12118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.377C>T
  hgvsp: ENSP00000474761.1:p.Ala126Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.377C>T
  hgvsp: ENSP00000470294.1:p.Ala126Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.377C>T
  hgvsp: ENSP00000416445.2:p.Ala126Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*267C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.482C>T
  hgvsp: ENSP00000474071.1:p.Ala161Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.377C>T
  hgvsp: ENSP00000365577.3:p.Ala126Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.341C>T
  hgvsp: ENSP00000443351.1:p.Ala114Val
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27398
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19127
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25845
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala126Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

X-48921954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921954
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921954
    reference: chr 0
allele count: 1
allele frequency: 7.980845969672785e-5
allele num: 12530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.342G>A
  hgvsp: ENST00000536628.2:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.378G>A
  hgvsp: ENST00000597275.1:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.483G>A
  hgvsp: ENST00000603986.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.378G>A
  hgvsp: ENST00000422185.2:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.378G>A
  hgvsp: ENST00000496529.2:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*268G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.378G>A
  hgvsp: ENST00000376396.3:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27438
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19144
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26284
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala126Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

X-48921956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921956
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921956
    reference: chr 0
allele count: 1
allele frequency: 8.208832703989493e-5
allele num: 12182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.380C>T
  hgvsp: ENSP00000416445.2:p.Ala127Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.344C>T
  hgvsp: ENSP00000443351.1:p.Ala115Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.380C>T
  hgvsp: ENSP00000474761.1:p.Ala127Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.380C>T
  hgvsp: ENSP00000365577.3:p.Ala127Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.485C>T
  hgvsp: ENSP00000474071.1:p.Ala162Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.380C>T
  hgvsp: ENSP00000470294.1:p.Ala127Val
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*270C>T
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27563
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25898
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Ala127Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

X-48921960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921960
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921960
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 12268
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.384C>T
  hgvsp: ENST00000422185.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*274C>T
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.384C>T
  hgvsp: ENST00000496529.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.384C>T
  hgvsp: ENST00000597275.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.489C>T
  hgvsp: ENST00000603986.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.348C>T
  hgvsp: ENST00000536628.2:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.384C>T
  hgvsp: ENST00000376396.3:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18733
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala128Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

X-48921961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921961
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921961
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 12273
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.349G>A
  hgvsp: ENSP00000443351.1:p.Ala117Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.385G>A
  hgvsp: ENSP00000365577.3:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*275G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.490G>A
  hgvsp: ENSP00000474071.1:p.Ala164Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.385G>A
  hgvsp: ENSP00000474761.1:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.385G>A
  hgvsp: ENSP00000470294.1:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.385G>A
  hgvsp: ENSP00000416445.2:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27974
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18743
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26232
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Ala129Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

X-48921968-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921968
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921968
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 12533
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.392G>A
  hgvsp: ENSP00000470294.1:p.Arg131His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.392G>A
  hgvsp: ENSP00000474761.1:p.Arg131His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.356G>A
  hgvsp: ENSP00000443351.1:p.Arg119His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*282G>A
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.392G>A
  hgvsp: ENSP00000416445.2:p.Arg131His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.497G>A
  hgvsp: ENSP00000474071.1:p.Arg166His
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.392G>A
  hgvsp: ENSP00000365577.3:p.Arg131His
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19034
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg131His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

X-48921975-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048921975
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048921975
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 13012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000470294
  ensembl transcript: ENST00000597275
  gene symbol: CCDC120
  hgvsc: ENST00000597275.1:c.399C>G
  hgvsp: ENST00000597275.1:c.399C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000443351
  ensembl transcript: ENST00000536628
  gene symbol: CCDC120
  hgvsc: ENST00000536628.2:c.363C>G
  hgvsp: ENST00000536628.2:c.363C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474761
  ensembl transcript: ENST00000496529
  gene symbol: CCDC120
  hgvsc: ENST00000496529.2:c.399C>G
  hgvsp: ENST00000496529.2:c.399C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474071
  ensembl transcript: ENST00000603986
  gene symbol: CCDC120
  hgvsc: ENST00000603986.1:c.504C>G
  hgvsp: ENST00000603986.1:c.504C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000416445
  ensembl transcript: ENST00000422185
  gene symbol: CCDC120
  hgvsc: ENST00000422185.2:c.399C>G
  hgvsp: ENST00000422185.2:c.399C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000365577
  ensembl transcript: ENST00000376396
  gene symbol: CCDC120
  hgvsc: ENST00000376396.3:c.399C>G
  hgvsp: ENST00000376396.3:c.399C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28910
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147144
  ensembl protein: ENSP00000474713
  ensembl transcript: ENST00000603906
  gene symbol: CCDC120
  hgvsc: ENST00000603906.1:c.*289C>G
  variant of: http://identifiers.org/hgnc/28910
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19941
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala133Ala
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 6151
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4049
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9609
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6523
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7809
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.379242391066345e-5
allele num: 45670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9085
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.832e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 4.162e0

VQSLOD
type: SiteQuality
SIO_000300: -1.292e0

DP
type: SiteQuality
SIO_000300: 1.527305e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.108e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
all individuals: 1724
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 285
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 326
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 718
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 905
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7808
bin: 6.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 4.617414248021108e-4
allele num: 45480
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.407155025553663e-3
allele num: 587
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 3.232222774738936e-3
allele num: 4022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9059
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.63e-2

QD
type: SiteQuality
SIO_000300: 1.679e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.609e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

DP
type: SiteQuality
SIO_000300: 1.514647e6

GenotypeQuality
all individuals: 1763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 285
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 583
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.215722768767172e-5
allele num: 45132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6463
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3951
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7687
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9491
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 2.77e1

DP
type: SiteQuality
SIO_000300: 1.488392e6

VQSLOD
type: SiteQuality
SIO_000300: -4.794e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45088
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.836e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

DP
type: SiteQuality
SIO_000300: 1.487807e6

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8048
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7222
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 689
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1627
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8985
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3928
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.608242044861763e-4
allele num: 7668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9450
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.095e0

QD
type: SiteQuality
SIO_000300: 1.443e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.480493e6

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
all individuals: 377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8836
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 392
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.237036374211445e-5
allele num: 44702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6431
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8931
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3863
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.734e1

DP
type: SiteQuality
SIO_000300: 1.460153e6

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

GenotypeQuality
all individuals: 405
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9203
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34479
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.485713004081999e-5
allele num: 44586
num of homozygotes: 0

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

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

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

VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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SIO_000300: 4.38e-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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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 8915
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6417
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9377
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.485713004081999e-5
allele num: 44586
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 575
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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MQ
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.249313959242431e-5
allele num: 44458
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 571
num of homozygotes: 0

DP
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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SIO_000300: -7.0e-3

MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.355657110550988e-5
allele num: 42451
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 3552
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East Asian
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allele frequency: 0.0e0
allele num: 6197
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
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SIO_000300: 0.0e0

MQRankSum
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InbreedingCoeff
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QD
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MQ
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SIO_000300: 6.0e1

VQSLOD
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BaseQRankSum
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SIO_000300: 6.94e-1

DP
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SIO_000300: 1.311695e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3534
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 6.919457514530861e-4
allele num: 7226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 543
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8953
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42240
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: 2.8e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.76769410474624e-5
allele num: 41949
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 4.15e-1

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

East Asian
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allele count: 1
allele frequency: 1.626545217957059e-4
allele num: 6148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41914
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 543
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3483
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

European (Non-Finnish)
type: Population
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African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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allele num: 37212
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East Asian
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allele num: 5589
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South Asian
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.293326435592343e-4
allele num: 7732
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7378
num of homozygotes: 0

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

QD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.0648e6

MQRankSum
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SIO_000300: 1.01e0

InbreedingCoeff
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SIO_000300: -8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 6.614e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2513
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6868
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5617
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34932
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.535e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.616e1

DP
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SIO_000300: 9.46147e5

ClippingRankSum
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SIO_000300: -1.044e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.930402930402931e-5
allele num: 34125
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5488
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2421
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 8.98415e5

VQSLOD
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 3.119e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 5421
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.959543046553612e-5
allele num: 33789
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

MQRankSum
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VQSLOD
type: SiteQuality
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.093e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6199
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 393
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.526717557251908e-4
allele num: 6550
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2323
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 33509
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.406e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.219e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.58427e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e0

VQSLOD
type: SiteQuality
SIO_000300: -5.614e-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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32601
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.919017463058914e-4
allele num: 5211
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6361
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

ClippingRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5680
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 7.920792079207921e-4
allele num: 5050
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2162
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.133224714876551e-5
allele num: 31916
num of homozygotes: 0

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

Latino
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South Asian
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Other
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BaseQRankSum
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DP
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MQRankSum
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MQ
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VQSLOD
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QD
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

InbreedingCoeff
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 count: 0
allele frequency: 0.0e0
allele num: 5001
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.198464736926275e-5
allele num: 31265
num of homozygotes: 0

East Asian
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QD
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5299
bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4963
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 353
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5217
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.226535024037686e-5
allele num: 30993
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4246e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 7.50769e5

QD
type: SiteQuality
SIO_000300: 1.221e1

VQSLOD
type: SiteQuality
SIO_000300: -1.782e0

GenotypeQuality
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bin: 7.25e1
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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 507
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4077
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.565167769915544e-5
allele num: 43810
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6447
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.330655e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

VQSLOD
type: SiteQuality
SIO_000300: -7.099e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9101
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.549186676994578e-4
allele num: 6455
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43952
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4072
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6263
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.576e0

DP
type: SiteQuality
SIO_000300: 1.365164e6

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 3.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.156e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 519
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9111
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44277
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4044
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.449485432671402e-4
allele num: 6899
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.682e1

DP
type: SiteQuality
SIO_000300: 1.392894e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 2.564e1

VQSLOD
type: SiteQuality
SIO_000300: -6.123e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6471
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.099384344766931e-4
allele num: 9096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.131e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 1.395932e6

MQRankSum
type: SiteQuality
SIO_000300: -1.734e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.819e0

QD
type: SiteQuality
SIO_000300: 2.689e1

GenotypeQuality
all individuals: 1236
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 309
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 535
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3873
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.2650569661827e-5
allele num: 44149
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9027
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7689
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.712e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e0

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
SIO_000300: 6.084e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

DP
type: SiteQuality
SIO_000300: 1.384535e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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
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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: 6421
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3845
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44119
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.302083333333333e-4
allele num: 7680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7953
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.078e1

GenotypeQuality
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variant carriers: 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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.285871031156422e-5
allele num: 43747
num of homozygotes: 0

African
type: Population
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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6377
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.666e1

DP
type: SiteQuality
SIO_000300: 1.363994e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43028
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 4.77326968973747e-4
allele num: 6285
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 539
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

FS
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 523
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.377216754623687e-5
allele num: 42066
num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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DP
type: SiteQuality
SIO_000300: 1.280611e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8401
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40032
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 9.830425165888424e-4
allele num: 8138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 499
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.194016e6

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.007e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.52e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 39730
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 8093
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7118
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8365
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.236e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.9e-3

QD
type: SiteQuality
SIO_000300: 1.627e1

DP
type: SiteQuality
SIO_000300: 1.18341e6

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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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 495
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.543493743005392e-5
allele num: 39316
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8283
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2999
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7042
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.851e1

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.521e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 1.7336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.170138e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.491e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7085
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3013
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 493
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8289
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.537491435966403e-5
allele num: 39409
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8037
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.012e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

FS
type: SiteQuality
SIO_000300: 1.145e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.024e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

DP
type: SiteQuality
SIO_000300: 1.168151e6

GenotypeQuality
all individuals: 912
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8191
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5905
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7957
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 483
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.580045924817462e-5
allele num: 38759
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6981
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.144075e6

FS
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.319e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5849
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7895
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.603488674824265e-5
allele num: 38410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2871
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 483
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.387e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.132712e6

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.419e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 2.558e1

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38443
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7911
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2872
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.874802357337933e-4
allele num: 6957
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8131
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.232e0

DP
type: SiteQuality
SIO_000300: 1.132094e6

QD
type: SiteQuality
SIO_000300: 1.34e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.651324336506085e-5
allele num: 37717
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 469
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7753
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.455392228205501e-4
allele num: 6871
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2743
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5745
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8001
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
type: SiteQuality
SIO_000300: 1.104224e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

FS
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

GenotypeQuality
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variant carriers: 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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 2.127659574468085e-3
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.85992135189712e-4
allele num: 37636
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.916302128900554e-4
allele num: 6858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1309e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.525e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 876
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.460493646852636e-4
allele num: 6847
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37527
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2711
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7687
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: -1.369e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.881e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.93e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

DP
type: SiteQuality
SIO_000300: 1.094933e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
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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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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7903
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7663
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.464128843338214e-4
allele num: 6830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37364
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.094549e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 5.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 2.313e0

MQ
type: SiteQuality
SIO_000300: 5.802e1

GenotypeQuality
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bin: 2.25e1
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
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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: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7873
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.321353065539112e-4
allele num: 7568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6811
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2674
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37215
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.88e0

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 1.637e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

DP
type: SiteQuality
SIO_000300: 1.081637e6

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 447
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.308044473512099e-4
allele num: 7645
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2534
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6715
num of homozygotes: 0

East Asian
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allele count: 5
allele frequency: 9.004141905276427e-4
allele num: 5553
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.807017543859649e-4
allele num: 7125
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.770927429410624e-5
allele num: 36089
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.286e0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

DP
type: SiteQuality
SIO_000300: 1.038868e6

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 2

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: 1

GenotypeQuality
all individuals: 697
bin: 1.25e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.321877065432915e-4
allele num: 7565
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.494991777545224e-4
allele num: 6689
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.798925212718316e-5
allele num: 35728
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2501
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5505
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.420051121840386e-4
allele num: 7042
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.336e0

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

DP
type: SiteQuality
SIO_000300: 1.03812e6

GenotypeQuality
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variant carriers: 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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2515
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 441
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7031
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.808972503617945e-4
allele num: 5528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7589
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.11e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
SIO_000300: 2.406e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

DP
type: SiteQuality
SIO_000300: 1.028792e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.811278850749206e-5
allele num: 35571
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6927
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5509
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2473
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7549
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

African
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allele count: 0
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allele num: 6689
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.063e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.020371e6

FS
type: SiteQuality
SIO_000300: 1.3132e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -2.295e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34241
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.861850679575498e-4
allele num: 5371
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2335
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.99e0

InbreedingCoeff
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SIO_000300: -6.8e-3

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

South Asian
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allele frequency: 1.904036557501904e-4
allele num: 5252
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Other
type: Population
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allele num: 369
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East Asian
type: Population
allele count: 0
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African
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele num: 2090
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1977
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6007
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30228
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.601024655779699e-4
allele num: 6246
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.223e0

DP
type: SiteQuality
SIO_000300: 8.11234e5

QD
type: SiteQuality
SIO_000300: 5.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

FS
type: SiteQuality
SIO_000300: 3.123e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

GenotypeQuality
all individuals: 638
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 24033
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 217
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5689
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5589
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 8.712698758440427e-4
allele num: 4591
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.385e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.4263e1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.758e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 6.90388e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

GenotypeQuality
all individuals: 4160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3269
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 667
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5547
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5599
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.839295854628052e-4
allele num: 3522
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -1.781e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 6.7824e5

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

GenotypeQuality
all individuals: 5327
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2967
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5197
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4269
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5125
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.983270264887473e-5
allele num: 25105
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 7.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

FS
type: SiteQuality
SIO_000300: 2.447e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.573e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.937e-1

DP
type: SiteQuality
SIO_000300: 6.36849e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

GenotypeQuality
all individuals: 5486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6053
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 181
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.50385423966363e-4
allele num: 2854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.110000000000001e-2

MQ
type: SiteQuality
SIO_000300: 4.082e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 2.0489e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.037e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

QD
type: SiteQuality
SIO_000300: 7.89e0

GenotypeQuality
all individuals: 2543
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 189
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 299
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 885
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 749
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.27396e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.57e-2

QD
type: SiteQuality
SIO_000300: 1.8e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 32117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 235
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1545
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 327
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3249
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -2.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.83e-2

FS
type: SiteQuality
SIO_000300: 2.363e0

QD
type: SiteQuality
SIO_000300: 9.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.56571e5

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

GenotypeQuality
all individuals: 19058
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 8.347245409015025e-4
allele num: 1198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 555
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.850596842510589e-4
allele num: 5194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.754e0

QD
type: SiteQuality
SIO_000300: 1.88e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.51e-2

DP
type: SiteQuality
SIO_000300: 3.49422e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.777e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

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

GenotypeQuality
all individuals: 1194
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 228
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variant carriers: 0

GenotypeQuality
all individuals: 19870
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1215
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 111
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 559
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 455
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.886792452830189e-4
allele num: 5300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.603e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

FS
type: SiteQuality
SIO_000300: 2.632e0

DP
type: SiteQuality
SIO_000300: 3.53756e5

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

VQSLOD
type: SiteQuality
SIO_000300: -7.272999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

MQ
type: SiteQuality
SIO_000300: 5.566e1

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

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 559
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 111
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 455
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1215
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.566e1

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.272999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.53756e5

QD
type: SiteQuality
SIO_000300: 1.603e1

FS
type: SiteQuality
SIO_000300: 2.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

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

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 384
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GenotypeQuality
all individuals: 1141
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1259
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 491
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 115
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 597
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 3.67742e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.414e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1011
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 511
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 113
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.872e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.89e-2

DP
type: SiteQuality
SIO_000300: 3.63988e5

VQSLOD
type: SiteQuality
SIO_000300: -2.213e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 2.326122354035822e-4
allele num: 4299
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.810610175629187e-4
allele num: 5523
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 117
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.68715e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.116e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 573
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 117
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.832172957127153e-4
allele num: 5458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.848e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.78e-2

DP
type: SiteQuality
SIO_000300: 3.69653e5

GenotypeQuality
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bin: 2.5e0
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: 108
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 585
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.265005662514156e-4
allele num: 4415
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.323e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.034e0

FS
type: SiteQuality
SIO_000300: 1.6246e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-2

DP
type: SiteQuality
SIO_000300: 3.72192e5

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.915708812260536e-3
allele num: 522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 993
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5471
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.381e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.499e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.69262e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.81e-2

QD
type: SiteQuality
SIO_000300: 7.91e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 91
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 117
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

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

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.68772e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 89
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4493
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 543
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 117
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 3.70112e5

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 545
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 1024
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Other
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allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
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QD
type: SiteQuality
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