5-179382693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179382693
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179382693
    reference: chr 5
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1245-24C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000520564
  gene symbol: RNF130
  hgvsc: ENST00000520564.1:n.473-24C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.474-24C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*764-24C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1151-24C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+11113C>T
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

5-179382694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179382694
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179382694
    reference: chr 5
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1245-25C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1151-25C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*764-25C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000520564
  gene symbol: RNF130
  hgvsc: ENST00000520564.1:n.473-25C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+11112C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.474-25C>T
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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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: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

5-179382694-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179382694
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179382693
    reference: chr 5
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*764-26delA
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000520564
  gene symbol: RNF130
  hgvsc: ENST00000520564.1:n.473-26delA
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1151-26delA
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+11111delA
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.474-26delA
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1245-26delA
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: GT
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

5-179382707-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179382707
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179382707
    reference: chr 5
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1245-38C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*764-38C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+11099C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000520564
  gene symbol: RNF130
  hgvsc: ENST00000520564.1:n.473-38C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.474-38C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1151-38C>T
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6727
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

5-179382714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179382714
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179382714
    reference: chr 5
allele count: 2
allele frequency: 1.663865825859803e-5
allele num: 120202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*764-45G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+11092G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.474-45G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1245-45G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000520564
  gene symbol: RNF130
  hgvsc: ENST00000520564.1:n.473-45G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1151-45G>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5130
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

5-179390427-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390427
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390427
    reference: chr 5
allele count: 12
allele frequency: 1.555935895441108e-4
allele num: 77124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+44C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+44C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+44C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3379C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3379C>G
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18519
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6107
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 236
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genotype depth: GenotypeDepth
  all individuals: 328
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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: 372
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genotype quality: GenotypeQuality
  all individuals: 492
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genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 4.25e1
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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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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: 518
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genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

5-179390428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390428
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390428
    reference: chr 5
allele count: 1
allele frequency: 1.292423811616305e-5
allele num: 77374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+43C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3378C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3378C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+43C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+43C>T
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
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genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2017
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

5-179390430-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390430
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390430
    reference: chr 5
allele count: 1
allele frequency: 1.280803319842205e-5
allele num: 78076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+41T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3376T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3376T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+41T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+41T>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7831
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
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  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-179390432-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390432
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390432
    reference: chr 5
allele count: 1
allele frequency: 1.279197687210582e-5
allele num: 78174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3374G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+39G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+39G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3374G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+39G>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18079
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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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: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

5-179390439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390439
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390439
    reference: chr 5
allele count: 1
allele frequency: 1.251032101483724e-5
allele num: 79934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3367G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+32G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+32G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3367G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+32G>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
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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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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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: 1675
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

5-179390441-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390441
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390441
    reference: chr 5
allele count: 1
allele frequency: 1.237133808392716e-5
allele num: 80832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3365G>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+30G>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+30G>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3365G>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+30G>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  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
  all individuals: 550
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4835
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-179390443-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390443
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390443
    reference: chr 5
allele count: 1
allele frequency: 1.222075573153444e-5
allele num: 81828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3363A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+28A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+28A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3363A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+28A>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6309
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

5-179390446-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390446
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390446
    reference: chr 5
allele count: 1
allele frequency: 1.190731347193446e-5
allele num: 83982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+25T>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3360T>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3360T>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+25T>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+25T>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12660
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17956
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/5-179390447-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390447
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390447
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 84582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3359T>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+24T>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3359T>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+24T>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+24T>G
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17272
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

5-179390447-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390447
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390447
    reference: chr 5
allele count: 1
allele frequency: 1.182284646851576e-5
allele num: 84582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3359T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+24T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+24T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3359T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+24T>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

5-179390460-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390460
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390460
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 96328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+11A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3346A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+11A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3346A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+11A>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12175
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-179390461-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390461
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390461
    reference: chr 5
allele count: 1
allele frequency: 1.02969644548787e-5
allele num: 97116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*763+10A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3345A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3345A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.473+10A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1244+10A>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-179390478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390478
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390478
    reference: chr 5
allele count: 6
allele frequency: 5.417411560756271e-5
allele num: 110754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*756G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3328G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.466G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1237G>A
  hgvsp: ENSP00000430237.1:p.Ala413Thr
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3328G>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5481
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala413Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

5-179390529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390529
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390529
    reference: chr 5
allele count: 2
allele frequency: 1.720992668571232e-5
allele num: 116212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*705A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1186A>G
  hgvsp: ENSP00000430237.1:p.Ser396Gly
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3277A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3277A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.415A>G
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44188
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser396Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

5-179390533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390533
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390533
    reference: chr 5
allele count: 1
allele frequency: 8.649471517290293e-6
allele num: 115614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3273C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1182C>T
  hgvsp: ENST00000521389.1:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3273C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*701C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.411C>T
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu394Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

5-179390548-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390548
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390548
    reference: chr 5
allele count: 10
allele frequency: 8.880363739698778e-5
allele num: 112608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3258T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1167T>C
  hgvsp: ENST00000521389.1:c.1167T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3258T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.396T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*686T>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile389Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

5-179390576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390576
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390576
    reference: chr 5
allele count: 1
allele frequency: 9.882985452245414e-6
allele num: 101184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.368C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3230C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3230C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*670-12C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1151-12C>T
  variant of: http://identifiers.org/hgnc/18280
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

5-179390581-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390581
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390581
    reference: chr 5
allele count: 8
allele frequency: 7.945809578673447e-5
allele num: 100682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*670-17C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.363C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3225C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3225C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1151-17C>G
  variant of: http://identifiers.org/hgnc/18280
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14648
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18175
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20560
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

5-179390599-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390599
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390599
    reference: chr 5
allele count: 1
allele frequency: 1.070870189115675e-5
allele num: 93382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3207C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1151-35C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3207C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.345C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*670-35C>G
  variant of: http://identifiers.org/hgnc/18280
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22051
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22260
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

5-179390614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179390614
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179390614
    reference: chr 5
allele count: 3
allele frequency: 3.63248898145009e-5
allele num: 82588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3192G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000521901
  gene symbol: RNF130
  hgvsc: ENST00000521901.1:n.330G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1151-50G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*670-50G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3192G>A
  variant of: http://identifiers.org/hgnc/18280
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8916
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15112
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19164
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6447
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5077
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

5-179393779-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393779
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393779
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 67088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+27A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*669+27A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+27A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1150+27A>G
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24135
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

5-179393786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393786
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393786
    reference: chr 5
allele count: 2
allele frequency: 2.822068576266403e-5
allele num: 70870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+20C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1150+20C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*669+20C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+20C>T
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2251
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

5-179393787-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393787
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393787
    reference: chr 5
allele count: 1
allele frequency: 1.394311210262131e-5
allele num: 71720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+19T>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1150+19T>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*669+19T>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+19T>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5259
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

5-179393790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393790
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393790
    reference: chr 5
allele count: 28
allele frequency: 3.755767786243159e-4
allele num: 74552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+16C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1150+16C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*669+16C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+16C>T
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14173
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21923
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

5-179393795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393795
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393795
    reference: chr 5
allele count: 1
allele frequency: 1.245423070216953e-5
allele num: 80294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+11G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*669+11G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1150+11G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+11G>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
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genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
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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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genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 250
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-179393797-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393797
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393797
    reference: chr 5
allele count: 5
allele frequency: 6.011349427719534e-5
allele num: 83176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*669+9G>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+9G>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1150+9G>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+9G>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 2.75e1
  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
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

5-179393800-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393800
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393800
    reference: chr 5
allele count: 1
allele frequency: 1.151251410282978e-5
allele num: 86862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*669+6T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1150+6T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+6T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+6T>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 1.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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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
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1150+6T>C
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

5-179393803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393803
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393803
    reference: chr 5
allele count: 9
allele frequency: 9.936845824316566e-5
allele num: 90572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1150+3A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1150+3A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*669+3A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1150+3A>G
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25724
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1150+3A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

5-179393816-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393816
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393816
    reference: chr 5
allele count: 2
allele frequency: 1.884943074719143e-5
allele num: 106104
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1140T>C
  hgvsp: ENST00000521389.1:c.1140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1140T>C
  hgvsp: ENST00000261947.4:c.1140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*659T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1140T>C
  hgvsp: ENST00000522208.2:c.1140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile380Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

5-179393820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393820
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393820
    reference: chr 5
allele count: 1
allele frequency: 9.212344541685859e-6
allele num: 108550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1136A>G
  hgvsp: ENSP00000429509.1:p.Asn379Ser
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1136A>G
  hgvsp: ENSP00000430237.1:p.Asn379Ser
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1136A>G
  hgvsp: ENSP00000261947.4:p.Asn379Ser
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*655A>G
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn379Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

5-179393822-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393822
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393822
    reference: chr 5
allele count: 1
allele frequency: 9.112281533050245e-6
allele num: 109742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1134C>G
  hgvsp: ENSP00000261947.4:p.Ile378Met
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1134C>G
  hgvsp: ENSP00000430237.1:p.Ile378Met
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*653C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1134C>G
  hgvsp: ENSP00000429509.1:p.Ile378Met
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37061
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5142
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1649
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genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile378Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

5-179393838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393838
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393838
    reference: chr 5
allele count: 3
allele frequency: 2.527891064747717e-5
allele num: 118676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*637C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1118C>T
  hgvsp: ENSP00000429509.1:p.Pro373Leu
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1118C>T
  hgvsp: ENSP00000430237.1:p.Pro373Leu
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1118C>T
  hgvsp: ENSP00000261947.4:p.Pro373Leu
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40831
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro373Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

5-179393841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393841
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393841
    reference: chr 5
allele count: 1
allele frequency: 8.377314233056882e-6
allele num: 119370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*634C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1115C>T
  hgvsp: ENSP00000430237.1:p.Thr372Ile
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1115C>T
  hgvsp: ENSP00000429509.1:p.Thr372Ile
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1115C>T
  hgvsp: ENSP00000261947.4:p.Thr372Ile
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr372Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

5-179393845-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393845
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393845
    reference: chr 5
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*630C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1111C>G
  hgvsp: ENSP00000430237.1:p.Leu371Val
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1111C>G
  hgvsp: ENSP00000429509.1:p.Leu371Val
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1111C>G
  hgvsp: ENSP00000261947.4:p.Leu371Val
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu371Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-179393846-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393846
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393846
    reference: chr 5
allele count: 1
allele frequency: 8.333055564814507e-6
allele num: 120004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*629G>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1110G>C
  hgvsp: ENSP00000429509.1:p.Glu370Asp
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1110G>C
  hgvsp: ENSP00000261947.4:p.Glu370Asp
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1110G>C
  hgvsp: ENSP00000430237.1:p.Glu370Asp
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu370Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

5-179393846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393846
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393846
    reference: chr 5
allele count: 7
allele frequency: 5.833138895370154e-5
allele num: 120004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1110G>A
  hgvsp: ENST00000261947.4:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1110G>A
  hgvsp: ENST00000522208.2:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*629G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1110G>A
  hgvsp: ENST00000521389.1:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40852
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu370Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

5-179393851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393851
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393851
    reference: chr 5
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*624G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1105G>A
  hgvsp: ENSP00000429509.1:p.Gly369Arg
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1105G>A
  hgvsp: ENSP00000261947.4:p.Gly369Arg
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1105G>A
  hgvsp: ENSP00000430237.1:p.Gly369Arg
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly369Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-179393862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393862
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393862
    reference: chr 5
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1094T>C
  hgvsp: ENSP00000429509.1:p.Leu365Pro
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1094T>C
  hgvsp: ENSP00000430237.1:p.Leu365Pro
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1094T>C
  hgvsp: ENSP00000261947.4:p.Leu365Pro
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*613T>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 45431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu365Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

5-179393865-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393865
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393865
    reference: chr 5
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1091C>G
  hgvsp: ENSP00000429509.1:p.Pro364Arg
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1091C>G
  hgvsp: ENSP00000261947.4:p.Pro364Arg
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1091C>G
  hgvsp: ENSP00000430237.1:p.Pro364Arg
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*610C>G
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro364Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

5-179393867-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393867
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393867
    reference: chr 5
allele count: 844
allele frequency: 6.96795072899295e-3
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1089A>G
  hgvsp: ENST00000521389.1:c.1089A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1089A>G
  hgvsp: ENST00000522208.2:c.1089A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1089A>G
  hgvsp: ENST00000261947.4:c.1089A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*608A>G
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 3.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 40105
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 2.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45041
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser363Ser
num of homozygotes: 30
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

5-179393868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393868
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393868
    reference: chr 5
allele count: 4
allele frequency: 3.301801132517788e-5
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1088C>T
  hgvsp: ENSP00000261947.4:p.Ser363Leu
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*607C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1088C>T
  hgvsp: ENSP00000430237.1:p.Ser363Leu
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1088C>T
  hgvsp: ENSP00000429509.1:p.Ser363Leu
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser363Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-179393869-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393869
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393869
    reference: chr 5
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1087T>C
  hgvsp: ENSP00000430237.1:p.Ser363Pro
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*606T>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1087T>C
  hgvsp: ENSP00000429509.1:p.Ser363Pro
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1087T>C
  hgvsp: ENSP00000261947.4:p.Ser363Pro
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser363Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

5-179393872-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393872
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393872
    reference: chr 5
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1084A>T
  hgvsp: ENSP00000261947.4:p.Ile362Phe
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*603A>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1084A>T
  hgvsp: ENSP00000430237.1:p.Ile362Phe
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1084A>T
  hgvsp: ENSP00000429509.1:p.Ile362Phe
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile362Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-179393873-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393873
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393873
    reference: chr 5
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1083G>T
  hgvsp: ENST00000261947.4:c.1083G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1083G>T
  hgvsp: ENST00000521389.1:c.1083G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*602G>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1083G>T
  hgvsp: ENST00000522208.2:c.1083G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly361Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-179393874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393874
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393874
    reference: chr 5
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1082G>A
  hgvsp: ENSP00000429509.1:p.Gly361Glu
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1082G>A
  hgvsp: ENSP00000261947.4:p.Gly361Glu
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1082G>A
  hgvsp: ENSP00000430237.1:p.Gly361Glu
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*601G>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 40010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly361Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

5-179393883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393883
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393883
    reference: chr 5
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1073G>A
  hgvsp: ENSP00000429509.1:p.Arg358Gln
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1073G>A
  hgvsp: ENSP00000261947.4:p.Arg358Gln
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*592G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1073G>A
  hgvsp: ENSP00000430237.1:p.Arg358Gln
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 9.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg358Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

5-179393884-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393884
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393884
    reference: chr 5
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1072C>A
  hgvsp: ENST00000521389.1:c.1072C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1072C>A
  hgvsp: ENST00000261947.4:c.1072C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1072C>A
  hgvsp: ENST00000522208.2:c.1072C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*591C>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg358Arg
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: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

5-179393895-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393895
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393895
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1061T>C
  hgvsp: ENSP00000261947.4:p.Leu354Pro
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1061T>C
  hgvsp: ENSP00000430237.1:p.Leu354Pro
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1061T>C
  hgvsp: ENSP00000429509.1:p.Leu354Pro
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*580T>C
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu354Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

5-179393896-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393896
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393896
    reference: chr 5
allele count: 11
allele frequency: 9.061701952384875e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1060C>G
  hgvsp: ENSP00000261947.4:p.Leu354Val
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1060C>G
  hgvsp: ENSP00000429509.1:p.Leu354Val
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*579C>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1060C>G
  hgvsp: ENSP00000430237.1:p.Leu354Val
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6644
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu354Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

5-179393902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393902
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393902
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1054C>T
  hgvsp: ENSP00000430237.1:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1054C>T
  hgvsp: ENSP00000261947.4:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*573C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1054C>T
  hgvsp: ENSP00000429509.1:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6651
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu352Phe
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

5-179393909-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393909
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393909
    reference: chr 5
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1047C>T
  hgvsp: ENST00000521389.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1047C>T
  hgvsp: ENST00000522208.2:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*566C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1047C>T
  hgvsp: ENST00000261947.4:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp349Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-179393910-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393910
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393910
    reference: chr 5
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1046A>T
  hgvsp: ENSP00000429509.1:p.Asp349Val
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1046A>T
  hgvsp: ENSP00000261947.4:p.Asp349Val
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*565A>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1046A>T
  hgvsp: ENSP00000430237.1:p.Asp349Val
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp349Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

5-179393912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393912
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393912
    reference: chr 5
allele count: 10
allele frequency: 8.237232289950576e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1044C>T
  hgvsp: ENST00000522208.2:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*563C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1044C>T
  hgvsp: ENST00000261947.4:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1044C>T
  hgvsp: ENST00000521389.1:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly348Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-179393913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393913
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393913
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*562G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1043G>A
  hgvsp: ENSP00000261947.4:p.Gly348Asp
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1043G>A
  hgvsp: ENSP00000429509.1:p.Gly348Asp
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1043G>A
  hgvsp: ENSP00000430237.1:p.Gly348Asp
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 533
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly348Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-179393915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393915
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393915
    reference: chr 5
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*560C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1041C>T
  hgvsp: ENST00000261947.4:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1041C>T
  hgvsp: ENST00000522208.2:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1041C>T
  hgvsp: ENST00000521389.1:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12310
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala347Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

5-179393917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393917
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393917
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1039G>A
  hgvsp: ENSP00000429509.1:p.Ala347Thr
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1039G>A
  hgvsp: ENSP00000261947.4:p.Ala347Thr
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1039G>A
  hgvsp: ENSP00000430237.1:p.Ala347Thr
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*558G>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala347Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

5-179393918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393918
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393918
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1038C>T
  hgvsp: ENST00000522208.2:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1038C>T
  hgvsp: ENST00000521389.1:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1038C>T
  hgvsp: ENST00000261947.4:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*557C>T
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu346Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

5-179393923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393923
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393923
    reference: chr 5
allele count: 25
allele frequency: 2.059206299523911e-4
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*552G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1033G>A
  hgvsp: ENSP00000430237.1:p.Asp345Asn
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1033G>A
  hgvsp: ENSP00000261947.4:p.Asp345Asn
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1033G>A
  hgvsp: ENSP00000429509.1:p.Asp345Asn
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39871
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp345Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

5-179393924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393924
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393924
    reference: chr 5
allele count: 17
allele frequency: 1.400237216657881e-4
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*551C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1032C>T
  hgvsp: ENST00000522208.2:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1032C>T
  hgvsp: ENST00000261947.4:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1032C>T
  hgvsp: ENST00000521389.1:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly344Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-179393926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393926
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393926
    reference: chr 5
allele count: 33
allele frequency: 2.718062762540153e-4
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*549G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1030G>A
  hgvsp: ENSP00000430237.1:p.Gly344Ser
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1030G>A
  hgvsp: ENSP00000429509.1:p.Gly344Ser
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1030G>A
  hgvsp: ENSP00000261947.4:p.Gly344Ser
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly344Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

5-179393927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393927
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393927
    reference: chr 5
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1029C>T
  hgvsp: ENST00000521389.1:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1029C>T
  hgvsp: ENST00000522208.2:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*548C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1029C>T
  hgvsp: ENST00000261947.4:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu343Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-179393940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393940
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393940
    reference: chr 5
allele count: 9
allele frequency: 7.412776331828814e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1016G>A
  hgvsp: ENSP00000261947.4:p.Arg339Gln
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1016G>A
  hgvsp: ENSP00000429509.1:p.Arg339Gln
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1016G>A
  hgvsp: ENSP00000430237.1:p.Arg339Gln
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*535G>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg339Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-179393950-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393950
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393950
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*525G>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.1006G>C
  hgvsp: ENSP00000430237.1:p.Ala336Pro
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.1006G>C
  hgvsp: ENSP00000261947.4:p.Ala336Pro
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.1006G>C
  hgvsp: ENSP00000429509.1:p.Ala336Pro
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala336Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

5-179393968-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393968
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393968
    reference: chr 5
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.988A>G
  hgvsp: ENSP00000429509.1:p.Arg330Gly
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.988A>G
  hgvsp: ENSP00000430237.1:p.Arg330Gly
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*507A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.988A>G
  hgvsp: ENSP00000261947.4:p.Arg330Gly
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.25e1
  variant carriers: 0
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: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg330Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-179393976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393976
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393976
    reference: chr 5
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*499A>G
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.980A>G
  hgvsp: ENSP00000429509.1:p.Asp327Gly
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.980A>G
  hgvsp: ENSP00000261947.4:p.Asp327Gly
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.980A>G
  hgvsp: ENSP00000430237.1:p.Asp327Gly
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp327Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

5-179393977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393977
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393977
    reference: chr 5
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*498G>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.979G>A
  hgvsp: ENSP00000429509.1:p.Asp327Asn
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.979G>A
  hgvsp: ENSP00000430237.1:p.Asp327Asn
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.979G>A
  hgvsp: ENSP00000261947.4:p.Asp327Asn
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp327Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

5-179393978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393978
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393978
    reference: chr 5
allele count: 175
allele frequency: 1.442109600329625e-3
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*497C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.978C>T
  hgvsp: ENST00000521389.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.978C>T
  hgvsp: ENST00000522208.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.978C>T
  hgvsp: ENST00000261947.4:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 132
genotype quality: GenotypeQuality
  all individuals: 6639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 9.75e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe326Phe
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

5-179393981-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393981
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393981
    reference: chr 5
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.975A>C
  hgvsp: ENST00000521389.1:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*494A>C
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.975A>C
  hgvsp: ENST00000261947.4:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.975A>C
  hgvsp: ENST00000522208.2:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala325Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-179393987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393987
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179393987
    reference: chr 5
allele count: 3
allele frequency: 2.472799208704253e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.969C>T
  hgvsp: ENST00000521389.1:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*488C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.969C>T
  hgvsp: ENST00000261947.4:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000519708
  gene symbol: RNF130
  hgvsc: ENST00000519708.1:n.594C>T
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.969C>T
  hgvsp: ENST00000522208.2:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn323Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

5-179394004-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179394004
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179394004
    reference: chr 5
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430237
  ensembl transcript: ENST00000521389
  gene symbol: RNF130
  hgvsc: ENST00000521389.1:c.952T>A
  hgvsp: ENSP00000430237.1:p.Leu318Met
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000261947
  ensembl transcript: ENST00000261947
  gene symbol: RNF130
  hgvsc: ENST00000261947.4:c.952T>A
  hgvsp: ENSP00000261947.4:p.Leu318Met
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000430999
  ensembl transcript: ENST00000520911
  gene symbol: RNF130
  hgvsc: ENST00000520911.1:c.*471T>A
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113269
  ensembl protein: ENSP00000429509
  ensembl transcript: ENST00000522208
  gene symbol: RNF130
  hgvsc: ENST00000522208.2:c.952T>A
  hgvsp: ENSP00000429509.1:p.Leu318Met
  variant of: http://identifiers.org/hgnc/18280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113269
  ensembl transcript: ENST00000519708
  gene symbol: RNF130
  hgvsc: ENST00000519708.1:n.577T>A
  variant of: http://identifiers.org/hgnc/18280
canonical: true
consequence: missense
filter: PASS
hgvs: p.Leu318Met
num of homozygotes: 0
reference allele: A

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

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

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3491
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8693
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.869719699960521e-5
allele num: 10132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -9.004e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.141e0

DP
type: SiteQuality
SIO_000300: 2.943732e6

FS
type: SiteQuality
SIO_000300: 1.2991e1

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
all individuals: 3340
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32769
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

DP
type: SiteQuality
SIO_000300: 2.942498e6

MQ
type: SiteQuality
SIO_000300: 6.016e1

FS
type: SiteQuality
SIO_000300: 3.178e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.152e1

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3491
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
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: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.016e1

FS
type: SiteQuality
SIO_000300: 3.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 2.942498e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.152e1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32764
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.171315724512466e-5
allele num: 16204
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: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.92364e6

QD
type: SiteQuality
SIO_000300: 1.808e1

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.287e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32759
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3304
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014499743767522e-5
allele num: 66346
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
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
allele num: 16100
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.969e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.913085e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

FS
type: SiteQuality
SIO_000300: 2.157e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeQuality
all individuals: 2082
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1403
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 760
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42540
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.862049227246708e-4
allele num: 6988
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.274426508071368e-3
allele num: 7062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4216
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.592356687898089e-3
allele num: 628
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.05147e6

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

FS
type: SiteQuality
SIO_000300: 8.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

GenotypeQuality
all individuals: 1404
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4611
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.926977325477593e-5
allele num: 11202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.76e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

DP
type: SiteQuality
SIO_000300: 1.054637e6

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 0

GenotypeQuality
all individuals: 5685
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.320185614849188e-5
allele num: 43100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7074
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.755e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
SIO_000300: 1.23e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 1.060557e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.315136361531694e-5
allele num: 43194
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.368e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.519e0

DP
type: SiteQuality
SIO_000300: 1.067961e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 4095
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variant carriers: 0

GenotypeQuality
all individuals: 7126
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4848
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.372495196266813e-4
allele num: 7286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44094
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.588e-1

FS
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 1.111345e6

QD
type: SiteQuality
SIO_000300: 1.321e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.568e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

GenotypeQuality
all individuals: 704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 1464
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GenotypeQuality
all individuals: 973
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variant carriers: 0

GenotypeQuality
all individuals: 4617
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

DP
type: SiteQuality
SIO_000300: 1.129367e6

MQ
type: SiteQuality
SIO_000300: 5.716e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 800
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 542
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variant carriers: 0

GenotypeQuality
all individuals: 524
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variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.216606818282573e-5
allele num: 45114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5056
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.341e-1

DP
type: SiteQuality
SIO_000300: 1.146726e6

MQ
type: SiteQuality
SIO_000300: 5.569e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

GenotypeQuality
all individuals: 4620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5401
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variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.883948756593821e-4
allele num: 5308
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.183694e6

FS
type: SiteQuality
SIO_000300: 1.082e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

BaseQRankSum
type: SiteQuality
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QD
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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46680
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
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: 670
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.077e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.194567e6

QD
type: SiteQuality
SIO_000300: 1.277e1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

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: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.142245072836332e-5
allele num: 46680
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

DP
type: SiteQuality
SIO_000300: 1.194567e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 4.077e0

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

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.277e1

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: 2.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52962
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.354214e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

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

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: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.872659176029963e-5
allele num: 53400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.363505e6

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 2.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 41701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4626
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 526
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.552904753232562e-4
allele num: 10982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.036914143508917e-4
allele num: 9644
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.329e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.575e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.511516e6

GenotypeQuality
all individuals: 4625
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.15467364901101e-5
allele num: 63398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

QD
type: SiteQuality
SIO_000300: 1.504e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 7.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.566573e6

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58574101677714e-5
allele num: 63062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 4.177e0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

DP
type: SiteQuality
SIO_000300: 1.558111e6

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7324
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15128
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.225790634959549e-3
allele num: 8158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.505811e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

QD
type: SiteQuality
SIO_000300: 1.257e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

GenotypeQuality
all individuals: 318
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 995
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.808383666678723e-5
allele num: 55298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.271311e6

MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

FS
type: SiteQuality
SIO_000300: 1.421e0

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

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

GenotypeQuality
all individuals: 4628
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.454386794167909e-4
allele num: 55006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13758
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.155e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

DP
type: SiteQuality
SIO_000300: 1.259056e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

FS
type: SiteQuality
SIO_000300: 1.315e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.641e0

GenotypeQuality
all individuals: 523
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5281
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4623
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.137656427758817e-4
allele num: 8790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

DP
type: SiteQuality
SIO_000300: 1.134605e6

VQSLOD
type: SiteQuality
SIO_000300: -1.114e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 7.33e0

MQ
type: SiteQuality
SIO_000300: 5.643e1

GenotypeQuality
all individuals: 4627
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.63012729844413e-5
allele num: 45248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11868
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 1.4872e1

DP
type: SiteQuality
SIO_000300: 1.097638e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.108e0

QD
type: SiteQuality
SIO_000300: 1.235e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

GenotypeQuality
all individuals: 817
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
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GenotypeQuality
all individuals: 10033
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3224
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.307e0

DP
type: SiteQuality
SIO_000300: 8.89823e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 3.522e0

GenotypeQuality
all individuals: 4683
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.139717425431711e-4
allele num: 6370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

DP
type: SiteQuality
SIO_000300: 9.46191e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.528828646570908e-5
allele num: 39544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.203e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
SIO_000300: 3.274e0

DP
type: SiteQuality
SIO_000300: 9.54266e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.863e-1

QD
type: SiteQuality
SIO_000300: 8.68e0

GenotypeQuality
all individuals: 1582
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 16316
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.427891618918131e-5
allele num: 41188
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.962066710268149e-3
allele num: 12232
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.779359430604982e-3
allele num: 562
num of homozygotes: 0

African
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: 4864
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.664345914254306e-4
allele num: 5458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

QD
type: SiteQuality
SIO_000300: 1.412e1

DP
type: SiteQuality
SIO_000300: 9.98342e5

GenotypeQuality
all individuals: 870
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44510
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.940289026520565e-5
allele num: 12594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.062143e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

QD
type: SiteQuality
SIO_000300: 1.157e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.485e0

GenotypeQuality
all individuals: 726
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 8.909479686386316e-4
allele num: 5612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46076
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

DP
type: SiteQuality
SIO_000300: 1.091857e6

QD
type: SiteQuality
SIO_000300: 7.13e0

FS
type: SiteQuality
SIO_000300: 1.3902e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1017
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.611508601004719e-5
allele num: 13138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.742e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.129643e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.945e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.187e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e0

QD
type: SiteQuality
SIO_000300: 7.17e0

GenotypeQuality
all individuals: 27563
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variant carriers: 0

GenotypeQuality
all individuals: 467
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variant carriers: 0

GenotypeQuality
all individuals: 601
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variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.981684252438781e-5
allele num: 50230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.209108498288436e-4
allele num: 13438
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.170367e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.477e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37539
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58846
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.24870699347875e-4
allele num: 8894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14762
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

DP
type: SiteQuality
SIO_000300: 1.33183e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

QD
type: SiteQuality
SIO_000300: 1.106e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 38444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1624
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60150
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.673785371062466e-5
allele num: 14984
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.551e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.09e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.085e0

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

DP
type: SiteQuality
SIO_000300: 1.358358e6

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.645007402533311e-5
allele num: 60790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.372584e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.173e0

FS
type: SiteQuality
SIO_000300: 7.659e0

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.025e0

VQSLOD
type: SiteQuality
SIO_000300: -3.049e-1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 1671
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65598
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.184834123222749e-4
allele num: 8440
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.975049362771496e-5
allele num: 11142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

FS
type: SiteQuality
SIO_000300: 1.465e0

DP
type: SiteQuality
SIO_000300: 1.474849e6

QD
type: SiteQuality
SIO_000300: 1.265e1

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516806212838248e-5
allele num: 65928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.943e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.246e1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.358e0

DP
type: SiteQuality
SIO_000300: 1.482938e6

GenotypeQuality
all individuals: 461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 122
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GenotypeQuality
all individuals: 491
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.782821365681862e-5
allele num: 10222
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.233e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.491188e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.608e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1695
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
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: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.636e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

FS
type: SiteQuality
SIO_000300: 5.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.62e-2

DP
type: SiteQuality
SIO_000300: 1.493274e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
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variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 462
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.763979537837361e-4
allele num: 11338
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.8828125e-4
allele num: 10240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.636e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.493274e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.62e-2

FS
type: SiteQuality
SIO_000300: 5.96e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.303e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.501283e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

FS
type: SiteQuality
SIO_000300: 3.477e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

GenotypeQuality
all individuals: 2181
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.312e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.392e0

VQSLOD
type: SiteQuality
SIO_000300: -1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

QD
type: SiteQuality
SIO_000300: 1.635e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.509296e6

GenotypeQuality
all individuals: 6562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45490
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.613e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.934e0

DP
type: SiteQuality
SIO_000300: 1.51056e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.417e1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2344
bin: 9.75e1
variant carriers: 809

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 753
allele frequency: 7.257131842713956e-2
allele num: 10376
num of homozygotes: 30

Other
type: Population
allele count: 6
allele frequency: 6.651884700665188e-3
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.553887721404983e-4
allele num: 66620
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.286859363614282e-4
allele num: 16468
num of homozygotes: 0

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

Latino
type: Population
allele count: 34
allele frequency: 2.949340735600278e-3
allele num: 11528
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

QD
type: SiteQuality
SIO_000300: 1.502e1

VQSLOD
type: SiteQuality
SIO_000300: 6.55e0

DP
type: SiteQuality
SIO_000300: 1.541519e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

GenotypeQuality
all individuals: 2025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 4
allele frequency: 3.854307188282906e-4
allele num: 10378
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.514393e6

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.653e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.293e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

FS
type: SiteQuality
SIO_000300: 2.666e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1354
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

DP
type: SiteQuality
SIO_000300: 1.514589e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.14e-1

FS
type: SiteQuality
SIO_000300: 2.638e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.543e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 2221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
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: 16478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.873e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.515313e6

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

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

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45380
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.515737e6

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

GenotypeQuality
all individuals: 2217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 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: 16480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.87e0

DP
type: SiteQuality
SIO_000300: 1.516342e6

QD
type: SiteQuality
SIO_000300: 3.047e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.417e0

GenotypeQuality
all individuals: 45552
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
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: 8654
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.171e1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

DP
type: SiteQuality
SIO_000300: 1.518526e6

GenotypeQuality
all individuals: 1365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45579
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.519092e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 1.189e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

QD
type: SiteQuality
SIO_000300: 1.239e1

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6646
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.519636e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.993e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

MQ
type: SiteQuality
SIO_000300: 5.776e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.656e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

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

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

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

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

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

Latino
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allele count: 6
allele frequency: 5.184929139301763e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.994305409860632e-5
allele num: 66730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.396e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.520028e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

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

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

FS
type: SiteQuality
SIO_000300: 2.94e0

DP
type: SiteQuality
SIO_000300: 1.520133e6

MQ
type: SiteQuality
SIO_000300: 5.549e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.523e0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

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

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

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

African
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allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

FS
type: SiteQuality
SIO_000300: 8.000999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

DP
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SIO_000300: 1.520095e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.864e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 66732
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.185e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 1.520076e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 8.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

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

Latino
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allele count: 8
allele frequency: 6.91085003455425e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.139e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

DP
type: SiteQuality
SIO_000300: 1.520704e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.61e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 4.776e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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South Asian
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allele num: 16512
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
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South Asian
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VQSLOD
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MQRankSum
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MQ
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FS
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 25

European (Non-Finnish)
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allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

South Asian
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allele num: 16512
num of homozygotes: 0

East Asian
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Other
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African
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allele frequency: 2.018454440599769e-3
allele num: 10404
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQ
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DP
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MQRankSum
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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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South Asian
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Other
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European (Non-Finnish)
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allele num: 66738
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African
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East Asian
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allele num: 8654
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Latino
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European (Finnish)
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 11578
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 33
allele frequency: 3.171856978085352e-3
allele num: 10404
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.03e-2

DP
type: SiteQuality
SIO_000300: 1.523043e6

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.412e1

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2034
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 3.743e0

DP
type: SiteQuality
SIO_000300: 1.521056e6

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

QD
type: SiteQuality
SIO_000300: 1.196e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.44e-1

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198681450404555e-4
allele num: 66740
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.521341e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.226e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.254e0

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

GenotypeQuality
all individuals: 2031
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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 (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.412000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

DP
type: SiteQuality
SIO_000300: 1.520751e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.157e0

VQSLOD
type: SiteQuality
SIO_000300: -1.157e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: -1.236e0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 9.75e1
variant carriers: 1

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.232e1

FS
type: SiteQuality
SIO_000300: 2.052e0

MQRankSum
type: SiteQuality
SIO_000300: 9.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.520516e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

GenotypeQuality
all individuals: 6652
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 8.75e1
variant carriers: 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: 6614
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: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 1.521075e6

VQSLOD
type: SiteQuality
SIO_000300: -1.196e-1

FS
type: SiteQuality
SIO_000300: 3.137e0

MQRankSum
type: SiteQuality
SIO_000300: -1.05e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

GenotypeQuality
all individuals: 45552
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 9.553000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

DP
type: SiteQuality
SIO_000300: 1.521006e6

QD
type: SiteQuality
SIO_000300: 1.233e1

VQSLOD
type: SiteQuality
SIO_000300: -9.631e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45426
bin: 6.25e1
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GenotypeQuality
all individuals: 515
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variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
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: 82
allele frequency: 1.229495906678262e-3
allele num: 66694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 85
allele frequency: 1.285152706380405e-2
allele num: 6614
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e0

QD
type: SiteQuality
SIO_000300: 1.267e1

DP
type: SiteQuality
SIO_000300: 1.537529e6

GenotypeQuality
all individuals: 527
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 1.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

QD
type: SiteQuality
SIO_000300: 1.779e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.997e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.523233e6

GenotypeQuality
all individuals: 1794
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
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variant carriers: 0

GenotypeQuality
all individuals: 45464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.838e0

DP
type: SiteQuality
SIO_000300: 1.521872e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.314e1