14-52194547-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194547
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194547
    reference: chr 14
allele count: 7
allele frequency: 5.76710771309463e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2498C>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.595C>T
  hgvsp: ENSP00000452529.1:p.Arg199Cys
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1645C>T
  hgvsp: ENSP00000379068.2:p.Arg549Cys
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1645C>T
  hgvsp: ENSP00000348550.4:p.Arg549Cys
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1669C>T
  hgvsp: ENSP00000343899.5:p.Arg557Cys
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1438C>T
  hgvsp: ENSP00000451977.1:p.Arg480Cys
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Arg557Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-52194548-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194548
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194548
    reference: chr 14
allele count: 7
allele frequency: 5.767202741892961e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.596G>A
  hgvsp: ENSP00000452529.1:p.Arg199His
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1439G>A
  hgvsp: ENSP00000451977.1:p.Arg480His
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1646G>A
  hgvsp: ENSP00000379068.2:p.Arg549His
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2499G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1646G>A
  hgvsp: ENSP00000348550.4:p.Arg549His
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1670G>A
  hgvsp: ENSP00000343899.5:p.Arg557His
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5411
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg557His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

14-52194550-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194550
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194550
    reference: chr 14
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1672A>G
  hgvsp: ENSP00000343899.5:p.Ile558Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1648A>G
  hgvsp: ENSP00000379068.2:p.Ile550Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1441A>G
  hgvsp: ENSP00000451977.1:p.Ile481Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.598A>G
  hgvsp: ENSP00000452529.1:p.Ile200Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1648A>G
  hgvsp: ENSP00000348550.4:p.Ile550Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2501A>G
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile558Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

14-52194555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194555
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194555
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1677A>G
  hgvsp: ENST00000344768.5:c.1677A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1446A>G
  hgvsp: ENST00000554167.1:c.1446A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.603A>G
  hgvsp: ENST00000553556.1:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2506A>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1653A>G
  hgvsp: ENST00000395718.2:c.1653A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1653A>G
  hgvsp: ENST00000356218.4:c.1653A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala559Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

14-52194561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194561
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194561
    reference: chr 14
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.609G>A
  hgvsp: ENST00000553556.1:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1659G>A
  hgvsp: ENST00000395718.2:c.1659G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1659G>A
  hgvsp: ENST00000356218.4:c.1659G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1452G>A
  hgvsp: ENST00000554167.1:c.1452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1683G>A
  hgvsp: ENST00000344768.5:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2512G>A
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu561Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

14-52194571-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194571
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194571
    reference: chr 14
allele count: 106
allele frequency: 8.733336628932062e-4
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1693A>T
  hgvsp: ENSP00000343899.5:p.Thr565Ser
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1669A>T
  hgvsp: ENSP00000379068.2:p.Thr557Ser
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1462A>T
  hgvsp: ENSP00000451977.1:p.Thr488Ser
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2522A>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1669A>T
  hgvsp: ENSP00000348550.4:p.Thr557Ser
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.619A>T
  hgvsp: ENSP00000452529.1:p.Thr207Ser
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5410
  bin: 9.75e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr565Ser
num of homozygotes: 1
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

14-52194581-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194581
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194581
    reference: chr 14
allele count: 6
allele frequency: 4.944049836022347e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2532G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1472G>T
  hgvsp: ENSP00000451977.1:p.Ser491Ile
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1679G>T
  hgvsp: ENSP00000379068.2:p.Ser560Ile
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1703G>T
  hgvsp: ENSP00000343899.5:p.Ser568Ile
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1679G>T
  hgvsp: ENSP00000348550.4:p.Ser560Ile
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.629G>T
  hgvsp: ENSP00000452529.1:p.Ser210Ile
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser568Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS

14-52194589-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194589
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194589
    reference: chr 14
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1480T>G
  hgvsp: ENSP00000451977.1:p.Phe494Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1687T>G
  hgvsp: ENSP00000379068.2:p.Phe563Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1687T>G
  hgvsp: ENSP00000348550.4:p.Phe563Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1711T>G
  hgvsp: ENSP00000343899.5:p.Phe571Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2540T>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.637T>G
  hgvsp: ENSP00000452529.1:p.Phe213Val
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5316
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe571Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-52194610-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194610
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194610
    reference: chr 14
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1708G>T
  hgvsp: ENSP00000379068.2:p.Asp570Tyr
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1708G>T
  hgvsp: ENSP00000348550.4:p.Asp570Tyr
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1732G>T
  hgvsp: ENSP00000343899.5:p.Asp578Tyr
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1501G>T
  hgvsp: ENSP00000451977.1:p.Asp501Tyr
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2561G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.658G>T
  hgvsp: ENSP00000452529.1:p.Asp220Tyr
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp578Tyr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

14-52194612-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194612
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194612
    reference: chr 14
allele count: 12
allele frequency: 9.892664589207102e-5
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.660T>G
  hgvsp: ENSP00000452529.1:p.Asp220Glu
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1710T>G
  hgvsp: ENSP00000379068.2:p.Asp570Glu
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1503T>G
  hgvsp: ENSP00000451977.1:p.Asp501Glu
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1734T>G
  hgvsp: ENSP00000343899.5:p.Asp578Glu
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2563T>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1710T>G
  hgvsp: ENSP00000348550.4:p.Asp570Glu
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp578Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

14-52194615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194615
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194615
    reference: chr 14
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2566G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.663G>A
  hgvsp: ENST00000553556.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1713G>A
  hgvsp: ENST00000356218.4:c.1713G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1713G>A
  hgvsp: ENST00000395718.2:c.1713G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1506G>A
  hgvsp: ENST00000554167.1:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1737G>A
  hgvsp: ENST00000344768.5:c.1737G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu579Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

14-52194624-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194624
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194624
    reference: chr 14
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1722C>T
  hgvsp: ENST00000356218.4:c.1722C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1515C>T
  hgvsp: ENST00000554167.1:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.672C>T
  hgvsp: ENST00000553556.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2575C>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1746C>T
  hgvsp: ENST00000344768.5:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1722C>T
  hgvsp: ENST00000395718.2:c.1722C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu582Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

14-52194627-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194627
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194627
    reference: chr 14
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1518T>A
  hgvsp: ENSP00000451977.1:p.Tyr506Ter
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1725T>A
  hgvsp: ENSP00000348550.4:p.Tyr575Ter
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1749T>A
  hgvsp: ENSP00000343899.5:p.Tyr583Ter
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.675T>A
  hgvsp: ENSP00000452529.1:p.Tyr225Ter
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2578T>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1725T>A
  hgvsp: ENSP00000379068.2:p.Tyr575Ter
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr583Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-52194627-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194627
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194627
    reference: chr 14
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.675T>C
  hgvsp: ENST00000553556.1:c.675T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1725T>C
  hgvsp: ENST00000395718.2:c.1725T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1749T>C
  hgvsp: ENST00000344768.5:c.1749T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1518T>C
  hgvsp: ENST00000554167.1:c.1518T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2578T>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1725T>C
  hgvsp: ENST00000356218.4:c.1725T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5275
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr583Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

14-52194629-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194629
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194629
    reference: chr 14
allele count: 2
allele frequency: 1.649158104787506e-5
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1520G>C
  hgvsp: ENSP00000451977.1:p.Cys507Ser
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1751G>C
  hgvsp: ENSP00000343899.5:p.Cys584Ser
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1727G>C
  hgvsp: ENSP00000348550.4:p.Cys576Ser
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.677G>C
  hgvsp: ENSP00000452529.1:p.Cys226Ser
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1727G>C
  hgvsp: ENSP00000379068.2:p.Cys576Ser
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2580G>C
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys584Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

14-52194633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194633
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194633
    reference: chr 14
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1731C>T
  hgvsp: ENST00000356218.4:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1731C>T
  hgvsp: ENST00000395718.2:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2584C>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.681C>T
  hgvsp: ENST00000553556.1:c.681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1524C>T
  hgvsp: ENST00000554167.1:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1755C>T
  hgvsp: ENST00000344768.5:c.1755C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn585Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

14-52194638-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194638
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194638
    reference: chr 14
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1736G>T
  hgvsp: ENSP00000379068.2:p.Cys579Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1736G>T
  hgvsp: ENSP00000348550.4:p.Cys579Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1760G>T
  hgvsp: ENSP00000343899.5:p.Cys587Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2589G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1529G>T
  hgvsp: ENSP00000451977.1:p.Cys510Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.686G>T
  hgvsp: ENSP00000452529.1:p.Cys229Phe
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys587Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-52194652-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194652
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194652
    reference: chr 14
allele count: 2
allele frequency: 1.649511744523621e-5
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.700T>C
  hgvsp: ENSP00000452529.1:p.Cys234Arg
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2603T>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1543T>C
  hgvsp: ENSP00000451977.1:p.Cys515Arg
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1750T>C
  hgvsp: ENSP00000348550.4:p.Cys584Arg
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1750T>C
  hgvsp: ENSP00000379068.2:p.Cys584Arg
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1774T>C
  hgvsp: ENSP00000343899.5:p.Cys592Arg
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys592Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

14-52194655-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194655
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194655
    reference: chr 14
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1753A>G
  hgvsp: ENSP00000379068.2:p.Ile585Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1753A>G
  hgvsp: ENSP00000348550.4:p.Ile585Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2606A>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1546A>G
  hgvsp: ENSP00000451977.1:p.Ile516Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.703A>G
  hgvsp: ENSP00000452529.1:p.Ile235Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1777A>G
  hgvsp: ENSP00000343899.5:p.Ile593Val
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14249
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile593Val
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

14-52194661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194661
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194661
    reference: chr 14
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1759A>G
  hgvsp: ENSP00000348550.4:p.Ile587Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2612A>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.709A>G
  hgvsp: ENSP00000452529.1:p.Ile237Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1759A>G
  hgvsp: ENSP00000379068.2:p.Ile587Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1783A>G
  hgvsp: ENSP00000343899.5:p.Ile595Val
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1552A>G
  hgvsp: ENSP00000451977.1:p.Ile518Val
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile595Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/14-52194665-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194665
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194665
    reference: chr 14
allele count: 3
allele frequency: 2.474390062849507e-5
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.713A>C
  hgvsp: ENSP00000452529.1:p.Gln238Pro
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1763A>C
  hgvsp: ENSP00000348550.4:p.Gln588Pro
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1556A>C
  hgvsp: ENSP00000451977.1:p.Gln519Pro
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1763A>C
  hgvsp: ENSP00000379068.2:p.Gln588Pro
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2616A>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1787A>C
  hgvsp: ENSP00000343899.5:p.Gln596Pro
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln596Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

14-52194668-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194668
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194668
    reference: chr 14
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1559A>G
  hgvsp: ENSP00000451977.1:p.Asp520Gly
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1790A>G
  hgvsp: ENSP00000343899.5:p.Asp597Gly
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1766A>G
  hgvsp: ENSP00000348550.4:p.Asp589Gly
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1766A>G
  hgvsp: ENSP00000379068.2:p.Asp589Gly
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.716A>G
  hgvsp: ENSP00000452529.1:p.Asp239Gly
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2619A>G
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp597Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

14-52194681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194681
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194681
    reference: chr 14
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1779C>T
  hgvsp: ENST00000395718.2:c.1779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1572C>T
  hgvsp: ENST00000554167.1:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1779C>T
  hgvsp: ENST00000356218.4:c.1779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1803C>T
  hgvsp: ENST00000344768.5:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.729C>T
  hgvsp: ENST00000553556.1:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2632C>T
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val601Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-52194698-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194698
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194698
    reference: chr 14
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1820A>T
  hgvsp: ENSP00000343899.5:p.Tyr607Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2649A>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1796A>T
  hgvsp: ENSP00000348550.4:p.Tyr599Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.746A>T
  hgvsp: ENSP00000452529.1:p.Tyr249Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1796A>T
  hgvsp: ENSP00000379068.2:p.Tyr599Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1589A>T
  hgvsp: ENSP00000451977.1:p.Tyr530Phe
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr607Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

14-52194699-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194699
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194700
    reference: chr 14
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.751dupT
  hgvsp: ENSP00000452529.1:p.Ser251PhefsTer7
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1801dupT
  hgvsp: ENSP00000348550.4:p.Ser601PhefsTer7
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1594dupT
  hgvsp: ENSP00000451977.1:p.Ser532PhefsTer7
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1801dupT
  hgvsp: ENSP00000379068.2:p.Ser601PhefsTer7
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2654dupT
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1825dupT
  hgvsp: ENSP00000343899.5:p.Ser609PhefsTer7
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32652
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser609PhefsTer7
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

14-52194704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194704
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194704
    reference: chr 14
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2655C>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1595C>T
  hgvsp: ENSP00000451977.1:p.Ser532Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.752C>T
  hgvsp: ENSP00000452529.1:p.Ser251Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1802C>T
  hgvsp: ENSP00000379068.2:p.Ser601Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1826C>T
  hgvsp: ENSP00000343899.5:p.Ser609Phe
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1802C>T
  hgvsp: ENSP00000348550.4:p.Ser601Phe
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser609Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

14-52194718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194718
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194718
    reference: chr 14
allele count: 1
allele frequency: 8.330695279828055e-6
allele num: 120038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1816C>T
  hgvsp: ENSP00000348550.4:p.His606Tyr
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.766C>T
  hgvsp: ENSP00000452529.1:p.His256Tyr
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1816C>T
  hgvsp: ENSP00000379068.2:p.His606Tyr
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1609C>T
  hgvsp: ENSP00000451977.1:p.His537Tyr
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2669C>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1840C>T
  hgvsp: ENSP00000343899.5:p.His614Tyr
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His614Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

14-52194721-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194721
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194721
    reference: chr 14
allele count: 27
allele frequency: 2.252327404985151e-4
allele num: 119876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2672G>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1819G>C
  hgvsp: ENSP00000348550.4:p.Asp607His
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1843G>C
  hgvsp: ENSP00000343899.5:p.Asp615His
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1819G>C
  hgvsp: ENSP00000379068.2:p.Asp607His
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1612G>C
  hgvsp: ENSP00000451977.1:p.Asp538His
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.769G>C
  hgvsp: ENSP00000452529.1:p.Asp257His
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13762
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23181
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5242
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp615His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-52194729-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194729
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194729
    reference: chr 14
allele count: 1
allele frequency: 8.380262805041566e-6
allele num: 119328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1827T>G
  hgvsp: ENST00000395718.2:c.1827T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1851T>G
  hgvsp: ENST00000344768.5:c.1851T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1620T>G
  hgvsp: ENST00000554167.1:c.1620T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2680T>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1827T>G
  hgvsp: ENST00000356218.4:c.1827T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.777T>G
  hgvsp: ENST00000553556.1:c.777T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val617Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-52194732-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194732
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194732
    reference: chr 14
allele count: 1
allele frequency: 8.397433744247758e-6
allele num: 119084
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1854A>G
  hgvsp: ENST00000344768.5:c.1854A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1830A>G
  hgvsp: ENST00000395718.2:c.1830A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1830A>G
  hgvsp: ENST00000356218.4:c.1830A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.780A>G
  hgvsp: ENST00000553556.1:c.780A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1623A>G
  hgvsp: ENST00000554167.1:c.1623A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2683A>G
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22812
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro618Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

14-52194738-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194738
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194738
    reference: chr 14
allele count: 1
allele frequency: 8.431418839162254e-6
allele num: 118604
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1860T>C
  hgvsp: ENST00000344768.5:c.1860T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1629T>C
  hgvsp: ENST00000554167.1:c.1629T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1836T>C
  hgvsp: ENST00000395718.2:c.1836T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.786T>C
  hgvsp: ENST00000553556.1:c.786T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1836T>C
  hgvsp: ENST00000356218.4:c.1836T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2689T>C
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe620Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

14-52194739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194739
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194739
    reference: chr 14
allele count: 1
allele frequency: 8.452799567216662e-6
allele num: 118304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.787G>A
  hgvsp: ENSP00000452529.1:p.Val263Ile
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2690G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1861G>A
  hgvsp: ENSP00000343899.5:p.Val621Ile
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1837G>A
  hgvsp: ENSP00000348550.4:p.Val613Ile
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1837G>A
  hgvsp: ENSP00000379068.2:p.Val613Ile
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1630G>A
  hgvsp: ENSP00000451977.1:p.Val544Ile
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13633
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val621Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-52194742-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194742
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194742
    reference: chr 14
allele count: 1
allele frequency: 8.460093737838614e-6
allele num: 118202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1633G>T
  hgvsp: ENSP00000451977.1:p.Val545Leu
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1840G>T
  hgvsp: ENSP00000348550.4:p.Val614Leu
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1864G>T
  hgvsp: ENSP00000343899.5:p.Val622Leu
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.790G>T
  hgvsp: ENSP00000452529.1:p.Val264Leu
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1840G>T
  hgvsp: ENSP00000379068.2:p.Val614Leu
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2693G>T
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5209
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val622Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

14-52194744-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194744
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194744
    reference: chr 14
allele count: 1
allele frequency: 8.482051978014521e-6
allele num: 117896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.1842G>A
  hgvsp: ENST00000356218.4:c.1842G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2695G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.1635G>A
  hgvsp: ENST00000554167.1:c.1635G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.792G>A
  hgvsp: ENST00000553556.1:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.1842G>A
  hgvsp: ENST00000395718.2:c.1842G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.1866G>A
  hgvsp: ENST00000344768.5:c.1866G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val622Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-52194753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194753
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194753
    reference: chr 14
allele count: 5
allele frequency: 4.267813855030899e-5
allele num: 117156
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*6G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*6G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*6G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2704G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

14-52194753-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194753
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194753
    reference: chr 14
allele count: 1
allele frequency: 8.535627710061798e-6
allele num: 117156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*6G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*6G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*6G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2704G>T
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21741
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-52194755-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194755
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194755
    reference: chr 14
allele count: 6
allele frequency: 5.145444566410538e-5
allele num: 116608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*8C>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*8C>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*8C>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*8C>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2706C>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*8C>G
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21328
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-52194758-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194758
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194758
    reference: chr 14
allele count: 1
allele frequency: 8.575005573753624e-6
allele num: 116618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*11T>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*11T>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2709T>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*11T>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*11T>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*11T>G
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
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: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

14-52194759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194759
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194759
    reference: chr 14
allele count: 2
allele frequency: 1.71556013038257e-5
allele num: 116580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2710G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*12G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*12G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*12G>A
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13288
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-52194761-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194761
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194761
    reference: chr 14
allele count: 1
allele frequency: 8.591951060246761e-6
allele num: 116388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2712G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*14G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*14G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*14G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*14G>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*14G>T
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-52194782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194782
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194782
    reference: chr 14
allele count: 1
allele frequency: 8.762398794293925e-6
allele num: 114124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*35T>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*35T>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2733T>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*35T>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*35T>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*35T>C
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5394
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

14-52194783-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194783
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194783
    reference: chr 14
allele count: 1
allele frequency: 8.782715615668365e-6
allele num: 113860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2734G>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*36G>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*36G>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*36G>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*36G>C
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*36G>C
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS

14-52194790-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194790
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194790
    reference: chr 14
allele count: 1
allele frequency: 8.912179384346648e-6
allele num: 112206
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*43A>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*43A>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*43A>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*43A>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2741A>G
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*43A>G
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: DP
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: MQ

14-52194798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194798
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194798
    reference: chr 14
allele count: 8
allele frequency: 7.259264636492324e-5
allele num: 110204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*51C>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2749C>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*51C>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*51C>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11001
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

14-52194799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52194799
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52194799
    reference: chr 14
allele count: 2
allele frequency: 1.819339579732557e-5
allele num: 109930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000451977
  ensembl transcript: ENST00000554167
  gene symbol: FRMD6
  hgvsc: ENST00000554167.1:c.*52G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000348550
  ensembl transcript: ENST00000356218
  gene symbol: FRMD6
  hgvsc: ENST00000356218.4:c.*52G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000379068
  ensembl transcript: ENST00000395718
  gene symbol: FRMD6
  hgvsc: ENST00000395718.2:c.*52G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000452529
  ensembl transcript: ENST00000553556
  gene symbol: FRMD6
  hgvsc: ENST00000553556.1:c.*52G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000139926
  ensembl protein: ENSP00000343899
  ensembl transcript: ENST00000344768
  gene symbol: FRMD6
  hgvsc: ENST00000344768.5:c.*52G>A
  variant of: http://identifiers.org/hgnc/19839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139926
  ensembl transcript: ENST00000557522
  gene symbol: FRMD6
  hgvsc: ENST00000557522.1:n.2750G>A
  variant of: http://identifiers.org/hgnc/19839
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11051
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4708
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-52294413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52294413
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52294413
    reference: chr 14
allele count: 1
allele frequency: 9.333582228859437e-5
allele num: 10714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.-92G>A
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-52294423-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52294423
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52294423
    reference: chr 14
allele count: 2
allele frequency: 1.86880956830499e-4
allele num: 10702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.-39G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.-82G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.-39G>C
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-52294429-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52294429
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52294429
    reference: chr 14
allele count: 4
allele frequency: 3.740415186085656e-4
allele num: 10694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.-33C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.-76C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.-33C>A
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/14-52294440-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52294440
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52294440
    reference: chr 14
allele count: 19
allele frequency: 1.781695423855964e-3
allele num: 10664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.-22C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.-22C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.-65C>A
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 118
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 3
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-52294500-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52294500
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52294500
    reference: chr 14
allele count: 1
allele frequency: 1.268391679350583e-4
allele num: 7884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.39A>C
  hgvsp: ENST00000556522.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.39A>C
  hgvsp: ENST00000553432.1:c.39A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.-5A>C
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.25e1
  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: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 176
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 58
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genotype quality: GenotypeQuality
  all individuals: 1591
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala13Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/14-52294523-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52294523
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52294523
    reference: chr 14
allele count: 28
allele frequency: 4.763525008506295e-3
allele num: 5878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.62A>C
  hgvsp: ENSP00000451279.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.19A>C
  hgvsp: ENSP00000450758.1:p.Lys7Gln
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.62A>C
  hgvsp: ENSP00000450904.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  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: 300
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Lys21Thr
num of homozygotes: 2
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

14-52294547-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52294547
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52294547
    reference: chr 14
allele count: 1
allele frequency: 2.421307506053269e-4
allele num: 4130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+22T>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+22T>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.21+22T>G
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-52294557-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52294557
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52294557
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 3068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+32C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+32C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.21+32C>A
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
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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: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

14-52294567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52294567
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52294567
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 1786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+42G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.21+42G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+42G>A
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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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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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

14-52294573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52294573
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52294573
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 1526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.21+48G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+48G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+48G>A
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

14-52308220-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52308220
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52308220
    reference: chr 14
allele count: 2
allele frequency: 1.88465887674331e-4
allele num: 10612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+13695A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.22-4A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+13695A>G
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
hgvs: c.22-4A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-52308252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52308252
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52308252
    reference: chr 14
allele count: 1
allele frequency: 9.335324869305452e-5
allele num: 10712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.50C>T
  hgvsp: ENSP00000450758.1:p.Thr17Ile
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+13727C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+13727C>T
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  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: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 268
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 46
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr17Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-52308277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52308277
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52308277
    reference: chr 14
allele count: 1
allele frequency: 9.33184023889511e-5
allele num: 10716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+13752G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+13752G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.75G>A
  hgvsp: ENST00000557376.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1.75e1
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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
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro25Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-52308281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52308281
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52308281
    reference: chr 14
allele count: 1
allele frequency: 9.33184023889511e-5
allele num: 10716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+13756T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.79T>C
  hgvsp: ENST00000557376.1:c.79T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+13756T>C
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu27Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-52308291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52308291
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52308291
    reference: chr 14
allele count: 1
allele frequency: 9.335324869305452e-5
allele num: 10712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.88+1G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+13766G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+13766G>A
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  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: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: c.88+1G>A
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

14-52308314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52308314
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52308314
    reference: chr 14
allele count: 5089
allele frequency: 4.763197304380382e-1
allele num: 10684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+13789G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.88+24G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+13789G>A
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 488
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.75e1
  variant carriers: 679
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.5e0
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 701
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 2.25e1
  variant carriers: 405
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.25e1
  variant carriers: 865
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.5e0
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 6.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 6.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 9.75e1
  variant carriers: 3260
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 31
num of homozygotes: 1243
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

14-52308333-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52308333
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52308332
    reference: chr 14
allele count: 9
allele frequency: 8.561643835616438e-4
allele num: 10512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.64+13810delT
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+13810delT
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.88+45delT
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: AT
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

14-52344299-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52344299
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52344299
    reference: chr 14
allele count: 2
allele frequency: 1.62999185004075e-4
allele num: 12270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.347-36T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+49774T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.58-36T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.88+36009T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000557208
  gene symbol: GNG2
  hgvsc: ENST00000557208.1:n.151-36T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.65-36T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-190-36T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000452014
  ensembl transcript: ENST00000554736
  gene symbol: GNG2
  hgvsc: ENST00000554736.1:c.-70-36T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-70-36T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-30+16791T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554832
  gene symbol: GNG2
  hgvsc: ENST00000554832.1:n.208-36T>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-70-36T>C
  variant of: http://identifiers.org/hgnc/4404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

14-52344336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52344336
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52344336
    reference: chr 14
allele count: 1
allele frequency: 8.128759551292472e-5
allele num: 12302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.59C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.66C>T
  hgvsp: ENST00000556522.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.88+36046C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+49811C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451576
  ensembl transcript: ENST00000556752
  gene symbol: GNG2
  hgvsc: ENST00000556752.1:c.-69C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-189C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-69C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.348C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000452014
  ensembl transcript: ENST00000554736
  gene symbol: GNG2
  hgvsc: ENST00000554736.1:c.-69C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000557208
  gene symbol: GNG2
  hgvsc: ENST00000557208.1:n.152C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554832
  gene symbol: GNG2
  hgvsc: ENST00000554832.1:n.209C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-30+16828C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-69C>T
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-189C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

14-52344375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52344375
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52344375
    reference: chr 14
allele count: 1
allele frequency: 8.192692118630181e-5
allele num: 12206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-150G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000557208
  gene symbol: GNG2
  hgvsc: ENST00000557208.1:n.191G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.105G>A
  hgvsp: ENST00000556522.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.387G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-30+16867G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.98G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.64+49850G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554832
  gene symbol: GNG2
  hgvsc: ENST00000554832.1:n.248G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451576
  ensembl transcript: ENST00000556752
  gene symbol: GNG2
  hgvsc: ENST00000556752.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.88+36085G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000452014
  ensembl transcript: ENST00000554736
  gene symbol: GNG2
  hgvsc: ENST00000554736.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000556471
  gene symbol: GNG2
  hgvsc: ENST00000556471.1:n.24G>A
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.98G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

14-52380911-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52380911
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52380911
    reference: chr 14
allele count: 3
allele frequency: 2.801643630930146e-4
allele num: 10708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-30+1065G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-29-36457G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.65-36457G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451576
  ensembl transcript: ENST00000556752
  gene symbol: GNG2
  hgvsc: ENST00000556752.1:c.-29-36457G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-29-36457G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.106-36457G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451536
  ensembl transcript: ENST00000554875
  gene symbol: GNG2
  hgvsc: ENST00000554875.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000556471
  gene symbol: GNG2
  hgvsc: ENST00000556471.1:n.144+1065G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.89-36457G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000452014
  ensembl transcript: ENST00000554736
  gene symbol: GNG2
  hgvsc: ENST00000554736.1:c.-29-36457G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.98+36536G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-29-36457G>C
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.388-25588G>C
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: 5' UTR
filter: PASS
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: 1000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

14-52380937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52380937
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52380937
    reference: chr 14
allele count: 1
allele frequency: 9.316191540898081e-5
allele num: 10734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-29-36431G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451576
  ensembl transcript: ENST00000556752
  gene symbol: GNG2
  hgvsc: ENST00000556752.1:c.-29-36431G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.98+36562G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-29-36431G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-30+1091G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451536
  ensembl transcript: ENST00000554875
  gene symbol: GNG2
  hgvsc: ENST00000554875.1:c.3G>A
  hgvsp: ENSP00000451536.1:p.Met1?
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-29-36431G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000556471
  gene symbol: GNG2
  hgvsc: ENST00000556471.1:n.144+1091G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.106-36431G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000452014
  ensembl transcript: ENST00000554736
  gene symbol: GNG2
  hgvsc: ENST00000554736.1:c.-29-36431G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.388-25562G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.65-36431G>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.89-36431G>A
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

14-52380965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52380965
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52380965
    reference: chr 14
allele count: 1
allele frequency: 9.30925339787749e-5
allele num: 10742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.388-25534C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000452014
  ensembl transcript: ENST00000554736
  gene symbol: GNG2
  hgvsc: ENST00000554736.1:c.-29-36403C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.106-36403C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-30+1119C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.98+36590C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-29-36403C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451536
  ensembl transcript: ENST00000554875
  gene symbol: GNG2
  hgvsc: ENST00000554875.1:c.31C>T
  hgvsp: ENSP00000451536.1:p.Gln11Ter
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451576
  ensembl transcript: ENST00000556752
  gene symbol: GNG2
  hgvsc: ENST00000556752.1:c.-29-36403C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.89-36403C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-29-36403C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.65-36403C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000556471
  gene symbol: GNG2
  hgvsc: ENST00000556471.1:n.144+1119C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-29-36403C>T
  variant of: http://identifiers.org/hgnc/4404
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln11Ter
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-52381013-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52381013
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52381013
    reference: chr 14
allele count: 3
allele frequency: 2.799029669714499e-4
allele num: 10718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.98+36638C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.388-25486C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000452014
  ensembl transcript: ENST00000554736
  gene symbol: GNG2
  hgvsc: ENST00000554736.1:c.-29-36355C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000556471
  gene symbol: GNG2
  hgvsc: ENST00000556471.1:n.144+1167C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.65-36355C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-29-36355C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-29-36355C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-29-36355C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.106-36355C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451576
  ensembl transcript: ENST00000556752
  gene symbol: GNG2
  hgvsc: ENST00000556752.1:c.-29-36355C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-30+1167C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451536
  ensembl transcript: ENST00000554875
  gene symbol: GNG2
  hgvsc: ENST00000554875.1:c.58+21C>A
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.89-36355C>A
  variant of: http://identifiers.org/hgnc/4404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

14-52381028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52381028
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52381028
    reference: chr 14
allele count: 1
allele frequency: 9.347541596560104e-5
allele num: 10698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451576
  ensembl transcript: ENST00000556752
  gene symbol: GNG2
  hgvsc: ENST00000556752.1:c.-29-36340C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.106-36340C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.89-36340C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-29-36340C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000452014
  ensembl transcript: ENST00000554736
  gene symbol: GNG2
  hgvsc: ENST00000554736.1:c.-29-36340C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000556471
  gene symbol: GNG2
  hgvsc: ENST00000556471.1:n.144+1182C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-29-36340C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.98+36653C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451536
  ensembl transcript: ENST00000554875
  gene symbol: GNG2
  hgvsc: ENST00000554875.1:c.58+36C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.65-36340C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-30+1182C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-29-36340C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.388-25471C>T
  variant of: http://identifiers.org/hgnc/4404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

14-52383119-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52383119
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52383119
    reference: chr 14
allele count: 2
allele frequency: 1.953125e-4
allele num: 10240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-29-34249G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-29-34249G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-29-34249G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.98+38744G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000556471
  gene symbol: GNG2
  hgvsc: ENST00000556471.1:n.144+3273G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.89-34249G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.106-34249G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000452014
  ensembl transcript: ENST00000554736
  gene symbol: GNG2
  hgvsc: ENST00000554736.1:c.-29-34249G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.388-23380G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451576
  ensembl transcript: ENST00000556752
  gene symbol: GNG2
  hgvsc: ENST00000556752.1:c.-29-34249G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451536
  ensembl transcript: ENST00000554875
  gene symbol: GNG2
  hgvsc: ENST00000554875.1:c.58+2127G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000258928
  ensembl protein: ENSP00000451373
  ensembl transcript: ENST00000556834
  gene symbol: RP11-463J10.2
  hgvsc: ENST00000556834.1:c.*36C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.65-34249G>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-30+3273G>T
  variant of: http://identifiers.org/hgnc/4404
canonical: true
consequence: 3' UTR
filter: PASS
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: 1564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

14-52383127-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52383127
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52383127
    reference: chr 14
allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-29-34241A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451536
  ensembl transcript: ENST00000554875
  gene symbol: GNG2
  hgvsc: ENST00000554875.1:c.58+2135A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-30+3281A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-29-34241A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451576
  ensembl transcript: ENST00000556752
  gene symbol: GNG2
  hgvsc: ENST00000556752.1:c.-29-34241A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.106-34241A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000258928
  ensembl protein: ENSP00000451373
  ensembl transcript: ENST00000556834
  gene symbol: RP11-463J10.2
  hgvsc: ENST00000556834.1:c.*28T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.388-23372A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000556471
  gene symbol: GNG2
  hgvsc: ENST00000556471.1:n.144+3281A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000452014
  ensembl transcript: ENST00000554736
  gene symbol: GNG2
  hgvsc: ENST00000554736.1:c.-29-34241A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-29-34241A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.98+38752A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.65-34241A>G
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450758
  ensembl transcript: ENST00000557376
  gene symbol: GNG2
  hgvsc: ENST00000557376.1:c.89-34241A>G
  variant of: http://identifiers.org/hgnc/4404
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

14-52383128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52383128
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 52383128
    reference: chr 14
allele count: 5
allele frequency: 4.862867146469559e-4
allele num: 10282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000554840
  gene symbol: GNG2
  hgvsc: ENST00000554840.1:n.98+38753C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450904
  ensembl transcript: ENST00000556522
  gene symbol: GNG2
  hgvsc: ENST00000556522.1:c.106-34240C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl transcript: ENST00000553299
  gene symbol: GNG2
  hgvsc: ENST00000553299.1:n.388-23371C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000450586
  ensembl transcript: ENST00000553560
  gene symbol: GNG2
  hgvsc: ENST00000553560.1:c.-29-34240C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451279
  ensembl transcript: ENST00000553432
  gene symbol: GNG2
  hgvsc: ENST00000553432.1:c.65-34240C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451231
  ensembl transcript: ENST00000556766
  gene symbol: GNG2
  hgvsc: ENST00000556766.1:c.-29-34240C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000334448
  ensembl transcript: ENST00000335281
  gene symbol: GNG2
  hgvsc: ENST00000335281.4:c.-29-34240C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451536
  ensembl transcript: ENST00000554875
  gene symbol: GNG2
  hgvsc: ENST00000554875.1:c.58+2136C>T
  variant of: http://identifiers.org/hgnc/4404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186469
  ensembl protein: ENSP00000451102
  ensembl transcript: ENST00000555472
  gene symbol: GNG2
  hgvsc: ENST00000555472.1:c.-30+3282C>T
  variant of: http://identifiers.org/hgnc/4404
canonical: true
consequence: 3' UTR
filter: PASS
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 10107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1049
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

East Asian
type: Population
allele count: 6
allele frequency: 6.936416184971098e-4
allele num: 8650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 4.319e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.358e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 1.857397e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32244
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.138e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

FS
type: SiteQuality
SIO_000300: 1.908e0

DP
type: SiteQuality
SIO_000300: 1.857084e6

QD
type: SiteQuality
SIO_000300: 1.219e1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32249
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5404
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1052
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10114
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

VQSLOD
type: SiteQuality
SIO_000300: -3.379e-1

DP
type: SiteQuality
SIO_000300: 1.856698e6

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.325e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.654e0

QD
type: SiteQuality
SIO_000300: 1.592e1

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

GenotypeQuality
all individuals: 3511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32254
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5400
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.764e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.214e0

DP
type: SiteQuality
SIO_000300: 1.856614e6

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

GenotypeQuality
all individuals: 10115
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5399
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4206
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 1.856435e6

FS
type: SiteQuality
SIO_000300: 1.473e0

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.644e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.524e0

QD
type: SiteQuality
SIO_000300: 1.34e1

GenotypeQuality
all individuals: 1049
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32216
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 96
allele frequency: 9.225446857582165e-3
allele num: 10406
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199040767386091e-4
allele num: 66720
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

QD
type: SiteQuality
SIO_000300: 1.44e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.34e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

DP
type: SiteQuality
SIO_000300: 1.860362e6

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5325
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.993614533681087e-5
allele num: 66714
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.853373e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.525e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 1048
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10113
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -8.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.546e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.175e1

DP
type: SiteQuality
SIO_000300: 1.852512e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

GenotypeQuality
all individuals: 3459
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5302
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.516e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

DP
type: SiteQuality
SIO_000300: 1.849388e6

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

FS
type: SiteQuality
SIO_000300: 6.619e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5306
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 32230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 12
allele frequency: 1.153402537485583e-3
allele num: 10404
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

FS
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.462e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 1.849396e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32174
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4124
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.722e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.262e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.84812e6

GenotypeQuality
all individuals: 1382
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 1.845412e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.883e0

MQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.844067e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.536e1

FS
type: SiteQuality
SIO_000300: 3.698e0

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

GenotypeQuality
all individuals: 9910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4089
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.698e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.536e1

DP
type: SiteQuality
SIO_000300: 1.844067e6

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

GenotypeQuality
all individuals: 32160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.285e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

DP
type: SiteQuality
SIO_000300: 1.843675e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

FS
type: SiteQuality
SIO_000300: 2.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

FS
type: SiteQuality
SIO_000300: 2.561e0

DP
type: SiteQuality
SIO_000300: 1.842831e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.998e0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 3388
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variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 1.841531e6

FS
type: SiteQuality
SIO_000300: 3.084e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.013e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.818e0

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.61e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5245
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.92e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.838488e6

FS
type: SiteQuality
SIO_000300: 3.647e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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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variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.618e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.604e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: -4.153e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

DP
type: SiteQuality
SIO_000300: 1.837737e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.352e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.306e0

MQRankSum
type: SiteQuality
SIO_000300: -1.469e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.836962e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 6.75e1
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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
all individuals: 2530
bin: 8.25e1
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GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499910001799964e-5
allele num: 66668
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 1.742e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.836603e6

GenotypeQuality
all individuals: 2526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.835797e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 1.7931e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.135e1

VQSLOD
type: SiteQuality
SIO_000300: -2.839e0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

FS
type: SiteQuality
SIO_000300: 2.656e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.832885e6

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3859
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variant carriers: 0

GenotypeQuality
all individuals: 5227
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -2.301e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.777e0

QD
type: SiteQuality
SIO_000300: 4.26e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 1.827511e6

MQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.509e0

GenotypeQuality
all individuals: 9525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 3857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5226
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3208
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.909e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 1.826732e6

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.603e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

FS
type: SiteQuality
SIO_000300: 2.173e0

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

GenotypeQuality
all individuals: 654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.468e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 5.145e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.526e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.822837e6

MQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

GenotypeQuality
all individuals: 964
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3138
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
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variant carriers: 0

GenotypeQuality
all individuals: 3811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5219
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.353240152477763e-5
allele num: 15740
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.985e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 1.81069e6

MQRankSum
type: SiteQuality
SIO_000300: -9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.922e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

QD
type: SiteQuality
SIO_000300: 1.179e1

GenotypeQuality
all individuals: 2445
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3805
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 1.663042087757452e-3
allele num: 15634
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 4.061e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 1.385e1

DP
type: SiteQuality
SIO_000300: 1.807257e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 5216
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512538947877908e-5
allele num: 66114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15258
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.528999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.796723e6

QD
type: SiteQuality
SIO_000300: 1.765e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5213
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.619009796134498e-5
allele num: 15108
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66040
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.354e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.224e0

DP
type: SiteQuality
SIO_000300: 1.792263e6

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.169e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9145
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.782761e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.803e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 8.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.087e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e0

VQSLOD
type: SiteQuality
SIO_000300: -6.531e-1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.855889208830385e-5
allele num: 14586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.916e0

DP
type: SiteQuality
SIO_000300: 1.776902e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 29632
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518971959777622e-5
allele num: 65834
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.77428e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.231e0

QD
type: SiteQuality
SIO_000300: 1.22e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 5.041e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520681265206813e-5
allele num: 65760
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14312
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.002e0

DP
type: SiteQuality
SIO_000300: 1.767481e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.46e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.033e0

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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variant carriers: 5

GenotypeQuality
all individuals: 145
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GenotypeQuality
all individuals: 3007
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.579173917025369e-5
allele num: 65514
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.763718023823472e-5
allele num: 10242
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.750268e6

QD
type: SiteQuality
SIO_000300: 1.133e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

FS
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 8884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 160
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 460
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GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.763718023823472e-5
allele num: 10242
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65514
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.09e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.133e1

DP
type: SiteQuality
SIO_000300: 1.750268e6

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 862
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.877742946708464e-4
allele num: 10208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.382e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.246e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

DP
type: SiteQuality
SIO_000300: 1.738248e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

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
all individuals: 5198
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GenotypeQuality
all individuals: 2388
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529847321237341e-5
allele num: 65366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13552
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.082e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.736576e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.06063110213326e-5
allele num: 65346
num of homozygotes: 0

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

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 13538
num of homozygotes: 0

African
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: 862
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.457000000000001e-1

BaseQRankSum
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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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531393568147014e-5
allele num: 65300
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 1.731835e6

FS
type: SiteQuality
SIO_000300: 4.599e0

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 647
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
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East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
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: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64676
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 2.248e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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
all individuals: 3282
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GenotypeQuality
all individuals: 2464
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.427439743805832e-5
allele num: 11866
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

East Asian
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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QD
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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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 frequency: 0.0e0
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South Asian
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allele num: 10932
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Latino
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Other
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DP
type: SiteQuality
SIO_000300: 1.552254e6

FS
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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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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East Asian
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South Asian
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African
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allele frequency: 6.041079339508659e-4
allele num: 9932
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Latino
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allele frequency: 8.939746111210442e-5
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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 frequency: 1.583531274742676e-5
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num of homozygotes: 0

Other
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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allele num: 63030
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African
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East Asian
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele frequency: 3.711952487008166e-4
allele num: 2694
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Other
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South Asian
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African
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
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European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Other
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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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: 2688
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European (Finnish)
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allele count: 0
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allele num: 0
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East Asian
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allele frequency: 0.0e0
allele num: 132
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Latino
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allele frequency: 0.0e0
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African
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Other
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South Asian
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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
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 8.051529790660225e-4
allele num: 7452
num of homozygotes: 1

European (Finnish)
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allele frequency: NaN
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Other
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Latino
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 4.861630516080778e-3
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QD
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VQSLOD
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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allele frequency: NaN
allele num: 0
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Latino
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Other
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VQSLOD
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 1.344086021505376e-4
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num of homozygotes: 0

European (Non-Finnish)
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African
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Latino
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Other
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East Asian
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allele frequency: 7.575757575757576e-3
allele num: 132
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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DP
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QD
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MQRankSum
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VQSLOD
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FS
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SIO_000300: 9.81e-1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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Latino
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allele frequency: 0.0e0
allele num: 92
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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DP
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FS
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SIO_000300: 9.84e-1

ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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Other
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European (Non-Finnish)
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African
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East Asian
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South Asian
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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variant carriers: 1

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 1.335113484646195e-4
allele num: 7490
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ClippingRankSum
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FS
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DP
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SIO_000300: 1.33922e5

InbreedingCoeff
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SIO_000300: -2.98e-2

BaseQRankSum
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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SIO_000300: -1.548e0

GenotypeQuality
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variant carriers: 0

Other
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2694
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Latino
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South Asian
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allele num: 7486
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DP
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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SIO_000300: 1.001e1

VQSLOD
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SIO_000300: 1.9e-1

MQRankSum
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SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 107

South Asian
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allele frequency: 4.570815450643777e-1
allele num: 7456
num of homozygotes: 797

European (Finnish)
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allele frequency: 5.0e-1
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East Asian
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allele frequency: 1.742424242424243e-1
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African
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allele frequency: 4.84375e-1
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Latino
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allele frequency: 4.673913043478261e-1
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Other
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allele frequency: 4.406779661016949e-1
allele num: 118
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European (Non-Finnish)
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allele count: 1469
allele frequency: 5.456909361069836e-1
allele num: 2692
num of homozygotes: 398

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
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SIO_000300: 9.3e-2

BaseQRankSum
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SIO_000300: -2.784e0

QD
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SIO_000300: 2.02e1

FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.416e-1

DP
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SIO_000300: 1.68677e5

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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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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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 4.736842105263158e-2
allele num: 190
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ClippingRankSum
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DP
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SIO_000300: 1.28326e5

MQRankSum
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SIO_000300: 6.08e-1

QD
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BaseQRankSum
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SIO_000300: 1.33e-1

VQSLOD
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FS
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -2.24e-2

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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African
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East Asian
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allele frequency: 1.01010101010101e-2
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European (Non-Finnish)
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Latino
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -2.53e-2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Finnish)
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Latino
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African
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Other
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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VQSLOD
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MQ
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FS
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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Other
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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DP
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VQSLOD
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MQ
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type: SiteQuality
SIO_000300: 3.153e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

DP
type: SiteQuality
SIO_000300: 1.20886e5