9-139750948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139750948
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139750948
    reference: chr 9
allele count: 1
allele frequency: 8.755494072530513e-6
allele num: 114214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2100C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-214C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1878C>T
  hgvsp: ENST00000445819.1:c.1878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8630
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly626Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

9-139750954-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139750954
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139750954
    reference: chr 9
allele count: 6
allele frequency: 5.252836531727133e-5
allele num: 114224
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-208C>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1884C>G
  hgvsp: ENSP00000411339.1:p.Asp628Glu
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2106C>G
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 34721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp628Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-139750955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139750955
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139750955
    reference: chr 9
allele count: 1
allele frequency: 8.754420982596212e-6
allele num: 114228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2107C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1885C>T
  hgvsp: ENSP00000411339.1:p.Gln629Ter
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-207C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln629Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

9-139750965-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139750965
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139750965
    reference: chr 9
allele count: 1
allele frequency: 8.751356460251339e-6
allele num: 114268
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-197C>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2117C>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1895C>G
  hgvsp: ENSP00000411339.1:p.Ala632Gly
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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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
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala632Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

9-139750969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139750969
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139750969
    reference: chr 9
allele count: 1
allele frequency: 8.750590664869879e-6
allele num: 114278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2121G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-193G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1899G>A
  hgvsp: ENST00000445819.1:c.1899G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly633Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-139750973-GACA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139750973
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139750970
    reference: chr 9
allele count: 1
allele frequency: 8.747528823107472e-6
allele num: 114318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1906_1908delAAC
  hgvsp: ENSP00000411339.1:p.Asn636del
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2128_2130delAAC
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-186_1721-184delAAC
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn636del
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: GACA
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

9-139750978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139750978
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139750978
    reference: chr 9
allele count: 3
allele frequency: 2.624166827032417e-5
allele num: 114322
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-184C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1908C>T
  hgvsp: ENST00000445819.1:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2130C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn636Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

9-139750986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139750986
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139750986
    reference: chr 9
allele count: 1
allele frequency: 8.745998705592191e-6
allele num: 114338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1916T>C
  hgvsp: ENSP00000411339.1:p.Leu639Pro
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2138T>C
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-176T>C
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu639Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

9-139750989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139750989
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139750989
    reference: chr 9
allele count: 9
allele frequency: 7.871261150953297e-5
allele num: 114340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1919G>A
  hgvsp: ENSP00000411339.1:p.Arg640Lys
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-173G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2141G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg640Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

9-139750990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139750990
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139750990
    reference: chr 9
allele count: 2
allele frequency: 1.749199741118438e-5
allele num: 114338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-172G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1920G>A
  hgvsp: ENST00000445819.1:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2142G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg640Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

9-139751005-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751005
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751005
    reference: chr 9
allele count: 8
allele frequency: 6.991540236314061e-5
allele num: 114424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2157A>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-157A>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1935A>G
  hgvsp: ENST00000445819.1:c.1935A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr645Thr
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-139751008-GACC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751008
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751005
    reference: chr 9
allele count: 126
allele frequency: 1.100878955737676e-3
allele num: 114454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1942_1944delACC
  hgvsp: ENSP00000411339.1:p.Thr648del
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2164_2166delACC
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-150_1721-148delACC
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19612
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21444
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 9.75e1
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr648del
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GACC
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

9-139751014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751014
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751014
    reference: chr 9
allele count: 1
allele frequency: 8.734692451478784e-6
allele num: 114486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1944C>T
  hgvsp: ENST00000445819.1:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-148C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2166C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr648Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

9-139751015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751015
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751015
    reference: chr 9
allele count: 1
allele frequency: 8.73774531219964e-6
allele num: 114446
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-147G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1945G>A
  hgvsp: ENSP00000411339.1:p.Glu649Lys
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2167G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
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genotype quality: GenotypeQuality
  all individuals: 78
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genotype quality: GenotypeQuality
  all individuals: 3451
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8510
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 974
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2597
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genotype quality: GenotypeQuality
  all individuals: 135
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu649Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

9-139751023-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751023
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751023
    reference: chr 9
allele count: 1
allele frequency: 8.723719794120213e-6
allele num: 114630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1953C>G
  hgvsp: ENSP00000411339.1:p.Asp651Glu
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2175C>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-139C>G
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 8509
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 973
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genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 138
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genotype quality: GenotypeQuality
  all individuals: 109
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genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp651Glu
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-139751026-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751026
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751027
    reference: chr 9
allele count: 1
allele frequency: 8.719308035714285e-6
allele num: 114688
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+1dupG
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2180dupG
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-134dupG
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33492
  bin: 6.25e1
  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
  all individuals: 352
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genotype quality: GenotypeQuality
  all individuals: 2187
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 978
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
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genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

9-139751031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751031
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751031
    reference: chr 9
allele count: 1
allele frequency: 8.717179817985285e-6
allele num: 114716
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-131C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2183C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+4C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1957+4C>T
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

9-139751037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751037
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751037
    reference: chr 9
allele count: 7
allele frequency: 6.098623453563339e-5
allele num: 114780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2189G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+10G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-125G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18907
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20605
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

9-139751038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751038
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751038
    reference: chr 9
allele count: 1
allele frequency: 8.711863816144826e-6
allele num: 114786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+11C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2190C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-124C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

9-139751039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751039
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751039
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 114856
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-123C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2191C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+12C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

9-139751042-T-TTGAGGAGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751042
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751051
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 114916
alternate allele: TTGAGGAGGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/9-139751043-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751043
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751043
    reference: chr 9
allele count: 1
allele frequency: 8.702614265325304e-6
allele num: 114908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2195C>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-119C>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+16C>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

9-139751043-C-CAGCCCAGAGTGGGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751043
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751058
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 114908
alternate allele: CAGCCCAGAGTGGGAG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

9-139751043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751043
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751043
    reference: chr 9
allele count: 1
allele frequency: 8.702614265325304e-6
allele num: 114908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2195C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+16C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-119C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.75e1
  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: 7.5e0
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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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  bin: 8.75e1
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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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-139751050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751050
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751050
    reference: chr 9
allele count: 1
allele frequency: 8.699283179066045e-6
allele num: 114952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+23C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-112C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2202C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

9-139751052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751052
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751052
    reference: chr 9
allele count: 1
allele frequency: 8.700948403375968e-6
allele num: 114930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2204C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+25C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-110C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

9-139751054-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751054
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751054
    reference: chr 9
allele count: 1
allele frequency: 8.698072507132419e-6
allele num: 114968
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-108C>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2206C>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+27C>G
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

9-139751063-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751063
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751063
    reference: chr 9
allele count: 6
allele frequency: 5.210142410559222e-5
allele num: 115160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2215T>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+36T>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-99T>G
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18053
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17163
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

9-139751069-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751069
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751069
    reference: chr 9
allele count: 1
allele frequency: 8.680555555555556e-6
allele num: 115200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+42T>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-93T>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2221T>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/9-139751072-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751072
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751071
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 115186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+46delC
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-89delC
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2225delC
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: AC
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

9-139751074-TCCTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751074
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751069
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 115230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+48_1957+52delCCTCC
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2227_2231delCCTCC
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-87_1721-83delCCTCC
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16736
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: TCCTCC
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

9-139751076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751076
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751076
    reference: chr 9
allele count: 1
allele frequency: 8.685531641391769e-6
allele num: 115134
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-86C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2228C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+49C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17140
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7857
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

9-139751077-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751077
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751077
    reference: chr 9
allele count: 1
allele frequency: 8.681610612400813e-6
allele num: 115186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2229T>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1957+50T>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-85T>G
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

9-139751114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751114
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751114
    reference: chr 9
allele count: 5
allele frequency: 4.336588665891863e-5
allele num: 115298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2266G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-48G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-48G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15094
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

9-139751114-GGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751114
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751112
    reference: chr 9
allele count: 2
allele frequency: 1.734635466356745e-5
allele num: 115298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2268_2269delAG
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-46_1958-45delAG
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-46_1721-45delAG
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15094
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: GGA
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-139751117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751117
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751117
    reference: chr 9
allele count: 1
allele frequency: 8.671372331385166e-6
allele num: 115322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-45G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2269G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-45G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18590
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

9-139751120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751120
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751120
    reference: chr 9
allele count: 1
allele frequency: 8.667313826099016e-6
allele num: 115376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-42G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2272G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-42G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18463
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

9-139751123-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751123
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751123
    reference: chr 9
allele count: 5
allele frequency: 4.338545372507505e-5
allele num: 115246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2275G>C
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-39G>C
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-39G>C
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18303
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

9-139751126-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751126
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751123
    reference: chr 9
allele count: 1
allele frequency: 8.668065114505139e-6
allele num: 115366
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-33_1721-31delAAG
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-33_1958-31delAAG
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2281_2283delAAG
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: GAGA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

9-139751128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751128
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751128
    reference: chr 9
allele count: 9
allele frequency: 7.803693748374231e-5
allele num: 115330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2280G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-34G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-34G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18053
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18064
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-139751132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751132
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751132
    reference: chr 9
allele count: 1
allele frequency: 8.667464073361416e-6
allele num: 115374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-30G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2284G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-30G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6346
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

9-139751134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751134
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751134
    reference: chr 9
allele count: 1
allele frequency: 8.668215387815956e-6
allele num: 115364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-28G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-28G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2286G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-139751140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751140
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751140
    reference: chr 9
allele count: 20
allele frequency: 1.735689242198077e-4
allele num: 115228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2292C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-22C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-22C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19511
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18072
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 20
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

9-139751141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751141
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751141
    reference: chr 9
allele count: 30
allele frequency: 2.6029917051331e-4
allele num: 115252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-21G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-21G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2293G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18150
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19714
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4707
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29969
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/9-139751155-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751155
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751155
    reference: chr 9
allele count: 1
allele frequency: 8.666712889135408e-6
allele num: 115384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-7C>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2307C>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-7C>A
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21722
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1721-7C>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-139751156-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751156
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751156
    reference: chr 9
allele count: 1
allele frequency: 8.668966832532898e-6
allele num: 115354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-6C>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-6C>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2308C>A
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18365
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1721-6C>A
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/9-139751160-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751160
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751160
    reference: chr 9
allele count: 17
allele frequency: 1.47125004327206e-4
allele num: 115548
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1721-2A>C
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2312A>C
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1958-2A>C
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18436
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22218
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1721-2A>C
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

9-139751163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751163
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751163
    reference: chr 9
allele count: 1
allele frequency: 8.655610566769381e-6
allele num: 115532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2315G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1722G>A
  hgvsp: ENST00000317446.2:c.1722G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1959G>A
  hgvsp: ENST00000445819.1:c.1959G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18385
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1722G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

9-139751164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751164
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751164
    reference: chr 9
allele count: 4614
allele frequency: 3.994321034679779e-2
allele num: 115514
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1723G>A
  hgvsp: ENSP00000319388.2:p.Val575Ile
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2316G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1960G>A
  hgvsp: ENSP00000411339.1:p.Val654Ile
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.75e1
  variant carriers: 509
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 3.25e1
  variant carriers: 695
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 18120
  bin: 2.75e1
  variant carriers: 870
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 1.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 1.75e1
  variant carriers: 506
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 21811
  bin: 2.25e1
  variant carriers: 778
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 32040
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 6.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4393
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 4.75e1
  variant carriers: 14
hgvs: p.Val575Ile
num of homozygotes: 127
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

9-139751165-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751165
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751165
    reference: chr 9
allele count: 1
allele frequency: 8.661308203991131e-6
allele num: 115456
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1724T>G
  hgvsp: ENSP00000319388.2:p.Val575Gly
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2317T>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1961T>G
  hgvsp: ENSP00000411339.1:p.Val654Gly
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22414
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6268
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val575Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

9-139751169-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751169
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751169
    reference: chr 9
allele count: 1
allele frequency: 8.666262241095416e-6
allele num: 115390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1728C>G
  hgvsp: ENST00000317446.2:c.1728C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1965C>G
  hgvsp: ENST00000445819.1:c.1965C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2321C>G
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34912
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser576Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

9-139751175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751175
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751175
    reference: chr 9
allele count: 1
allele frequency: 8.664309974353643e-6
allele num: 115416
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1734C>T
  hgvsp: ENST00000317446.2:c.1734C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2327C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1971C>T
  hgvsp: ENST00000445819.1:c.1971C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn578Asn
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

9-139751181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751181
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751181
    reference: chr 9
allele count: 1
allele frequency: 8.67694016382063e-6
allele num: 115248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1977G>A
  hgvsp: ENST00000445819.1:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2333G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1740G>A
  hgvsp: ENST00000317446.2:c.1740G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu580Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

9-139751182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751182
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751182
    reference: chr 9
allele count: 5
allele frequency: 4.360794711228174e-5
allele num: 114658
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1741C>T
  hgvsp: ENSP00000319388.2:p.Arg581Trp
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2334C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1978C>T
  hgvsp: ENSP00000411339.1:p.Arg660Trp
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21677
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18751
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg581Trp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

9-139751183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751183
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751183
    reference: chr 9
allele count: 18
allele frequency: 1.564509960713417e-4
allele num: 115052
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1742G>A
  hgvsp: ENSP00000319388.2:p.Arg581Gln
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1979G>A
  hgvsp: ENSP00000411339.1:p.Arg660Gln
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2335G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18720
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21826
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg581Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

9-139751187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751187
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751187
    reference: chr 9
allele count: 1
allele frequency: 8.689909277347145e-6
allele num: 115076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2339C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1746C>T
  hgvsp: ENST00000317446.2:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1983C>T
  hgvsp: ENST00000445819.1:c.1983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp582Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

9-139751192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751192
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751192
    reference: chr 9
allele count: 1
allele frequency: 8.703674691454733e-6
allele num: 114894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1988G>A
  hgvsp: ENSP00000411339.1:p.Cys663Tyr
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2344G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1751G>A
  hgvsp: ENSP00000319388.2:p.Cys584Tyr
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18205
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32260
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys584Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

9-139751194-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751194
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751194
    reference: chr 9
allele count: 1
allele frequency: 8.706402688537151e-6
allele num: 114858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2346A>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.1990A>T
  hgvsp: ENSP00000411339.1:p.Ser664Cys
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1753A>T
  hgvsp: ENSP00000319388.2:p.Ser585Cys
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser585Cys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

9-139751204-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751204
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751204
    reference: chr 9
allele count: 5
allele frequency: 4.372922861640721e-5
allele num: 114340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2000C>G
  hgvsp: ENSP00000411339.1:p.Pro667Arg
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2356C>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1763C>G
  hgvsp: ENSP00000319388.2:p.Pro588Arg
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18528
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro588Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

9-139751207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751207
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751207
    reference: chr 9
allele count: 2
allele frequency: 1.751497530388482e-5
allele num: 114188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2359G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1766G>A
  hgvsp: ENSP00000319388.2:p.Gly589Asp
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2003G>A
  hgvsp: ENSP00000411339.1:p.Gly668Asp
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18178
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16930
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6933
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly589Asp
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/9-139751208-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751208
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751208
    reference: chr 9
allele count: 2
allele frequency: 1.753032746651707e-5
allele num: 114088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1767C>A
  hgvsp: ENST00000317446.2:c.1767C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2004C>A
  hgvsp: ENST00000445819.1:c.2004C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2360C>A
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly589Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

9-139751211-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751211
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751211
    reference: chr 9
allele count: 1
allele frequency: 8.756107384900968e-6
allele num: 114206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1770C>T
  hgvsp: ENST00000317446.2:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2363C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2007C>T
  hgvsp: ENST00000445819.1:c.2007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His590His
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

9-139751211-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751211
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751209
    reference: chr 9
allele count: 1
allele frequency: 8.756107384900968e-6
allele num: 114206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2367_2368delTC
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2011_2012delTC
  hgvsp: ENSP00000411339.1:p.Ser671ArgfsTer13
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1774_1775delTC
  hgvsp: ENSP00000319388.2:p.Ser592ArgfsTer13
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser592ArgfsTer13
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: CCT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

9-139751216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751216
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751216
    reference: chr 9
allele count: 1
allele frequency: 8.778244000070226e-6
allele num: 113918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2368C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1775C>T
  hgvsp: ENSP00000319388.2:p.Ser592Leu
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2012C>T
  hgvsp: ENSP00000411339.1:p.Ser671Leu
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5042
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser592Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

9-139751219-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751219
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751219
    reference: chr 9
allele count: 1
allele frequency: 8.784104284886069e-6
allele num: 113842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2015A>G
  hgvsp: ENSP00000411339.1:p.Asp672Gly
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2371A>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1778A>G
  hgvsp: ENSP00000319388.2:p.Asp593Gly
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15995
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 80
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genotype quality: GenotypeQuality
  all individuals: 1464
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genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp593Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-139751221-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751221
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751221
    reference: chr 9
allele count: 2
allele frequency: 1.759169671914856e-5
allele num: 113690
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1780A>G
  hgvsp: ENSP00000319388.2:p.Thr594Ala
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2373A>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2017A>G
  hgvsp: ENSP00000411339.1:p.Thr673Ala
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15302
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1885
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genotype quality: GenotypeQuality
  all individuals: 4599
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 169
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genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 622
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genotype quality: GenotypeQuality
  all individuals: 7904
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 90
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genotype quality: GenotypeQuality
  all individuals: 602
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genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 282
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24037
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr594Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

9-139751222-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751222
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751222
    reference: chr 9
allele count: 1
allele frequency: 8.814300320840532e-6
allele num: 113452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2018C>T
  hgvsp: ENSP00000411339.1:p.Thr673Ile
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1781C>T
  hgvsp: ENSP00000319388.2:p.Thr594Ile
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2374C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15008
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr594Ile
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

9-139751224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751224
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751224
    reference: chr 9
allele count: 18
allele frequency: 1.587665602342689e-4
allele num: 113374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2376C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2020C>T
  hgvsp: ENSP00000411339.1:p.His674Tyr
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1783C>T
  hgvsp: ENSP00000319388.2:p.His595Tyr
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4730
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
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  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His595Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-139751225-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751225
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751225
    reference: chr 9
allele count: 1
allele frequency: 8.819119851838787e-6
allele num: 113390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2377A>G
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2021A>G
  hgvsp: ENSP00000411339.1:p.His674Arg
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1784A>G
  hgvsp: ENSP00000319388.2:p.His595Arg
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14844
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7986
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3843
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4730
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His595Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

9-139751232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751232
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751232
    reference: chr 9
allele count: 2
allele frequency: 1.771416424573089e-5
allele num: 112904
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1791C>T
  hgvsp: ENST00000317446.2:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2384C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2028C>T
  hgvsp: ENST00000445819.1:c.2028C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15073
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 5031
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg597Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ

9-139751239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751239
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751239
    reference: chr 9
allele count: 2
allele frequency: 1.781070779752787e-5
allele num: 112292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2035G>A
  hgvsp: ENSP00000411339.1:p.Glu679Lys
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1798G>A
  hgvsp: ENSP00000319388.2:p.Glu600Lys
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2391G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu600Lys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

9-139751244-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751244
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751244
    reference: chr 9
allele count: 1
allele frequency: 8.941184885821069e-6
allele num: 111842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2040C>G
  hgvsp: ENSP00000411339.1:p.Ser680Arg
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1803C>G
  hgvsp: ENSP00000319388.2:p.Ser601Arg
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2396C>G
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11961
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser601Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-139751244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751244
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751244
    reference: chr 9
allele count: 1
allele frequency: 8.941184885821069e-6
allele num: 111842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2396C>T
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2040C>T
  hgvsp: ENST00000445819.1:c.2040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1803C>T
  hgvsp: ENST00000317446.2:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser601Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-139751246-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751246
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751246
    reference: chr 9
allele count: 3
allele frequency: 2.679719879948549e-5
allele num: 111952
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1805G>A
  hgvsp: ENSP00000319388.2:p.Arg602His
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2042G>A
  hgvsp: ENSP00000411339.1:p.Arg681His
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2398G>A
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10491
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11568
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
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genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 545
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genotype quality: GenotypeQuality
  all individuals: 5091
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genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 479
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20294
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg602His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

9-139751247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751247
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751247
    reference: chr 9
allele count: 1
allele frequency: 8.925224469395405e-6
allele num: 112042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2043C>T
  hgvsp: ENST00000445819.1:c.2043C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1806C>T
  hgvsp: ENST00000317446.2:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2399C>T
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15726
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg602Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

9-139751249-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139751249
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139751249
    reference: chr 9
allele count: 1
allele frequency: 8.911067545891997e-6
allele num: 112220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000411339
  ensembl transcript: ENST00000445819
  gene symbol: MAMDC4
  hgvsc: ENST00000445819.1:c.2045G>A
  hgvsp: ENSP00000411339.1:p.Gly682Asp
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177943
  ensembl transcript: ENST00000485732
  gene symbol: MAMDC4
  hgvsc: ENST00000485732.1:n.2401G>A
  variant of: http://identifiers.org/hgnc/24083
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177943
  ensembl protein: ENSP00000319388
  ensembl transcript: ENST00000317446
  gene symbol: MAMDC4
  hgvsc: ENST00000317446.2:c.1808G>A
  hgvsp: ENSP00000319388.2:p.Gly603Asp
  variant of: http://identifiers.org/hgnc/24083
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly603Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum

GenotypeQuality
all individuals: 2596
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608596338834733e-5
allele num: 62166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.174e0

DP
type: SiteQuality
SIO_000300: 1.584674e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.783e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.832e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.139e0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.651267533136018e-5
allele num: 62168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.585129e6

QD
type: SiteQuality
SIO_000300: 1.393e1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.794e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

GenotypeQuality
all individuals: 968
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608492842206852e-5
allele num: 62170
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.463e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.437e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 1.584729e6

GenotypeQuality
all individuals: 2192
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62180
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176747469992939e-4
allele num: 8498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.585989e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.666e0

QD
type: SiteQuality
SIO_000300: 7.17e0

MQRankSum
type: SiteQuality
SIO_000300: -7.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.852e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.143260842855388e-5
allele num: 16278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.586567e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.816e0

GenotypeQuality
all individuals: 831
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62202
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

DP
type: SiteQuality
SIO_000300: 1.587176e6

FS
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.807e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

QD
type: SiteQuality
SIO_000300: 1.709e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.621461027612723e-4
allele num: 11444
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

FS
type: SiteQuality
SIO_000300: 8.255000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

DP
type: SiteQuality
SIO_000300: 1.587806e6

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607872142007267e-5
allele num: 62194
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.696e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.456e0

VQSLOD
type: SiteQuality
SIO_000300: -3.176e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

QD
type: SiteQuality
SIO_000300: 8.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.588106e6

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.915212582944212e-4
allele num: 16276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608027272142536e-5
allele num: 62188
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.588862e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

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

European (Non-Finnish)
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allele frequency: 1.608078988839932e-5
allele num: 62186
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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African
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allele frequency: 1.182312603452353e-4
allele num: 8458
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Latino
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allele frequency: 0.0e0
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East Asian
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Other
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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MQRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 8508
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Latino
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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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South Asian
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allele frequency: 4.918234353866962e-4
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African
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQ
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FS
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MQRankSum
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QD
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele count: 2
allele frequency: 2.336448598130841e-3
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.747640685075148e-4
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African
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allele count: 121
allele frequency: 1.418190342240975e-2
allele num: 8532
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European (Non-Finnish)
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allele frequency: 1.606787068577672e-5
allele num: 62236
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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MQ
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MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11436
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.606580553948975e-5
allele num: 62244
num of homozygotes: 0

Other
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
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MQ
type: SiteQuality
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QD
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FS
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VQSLOD
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MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8512
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.607096940087426e-5
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African
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allele frequency: 0.0e0
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Latino
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allele count: 0
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Other
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allele frequency: 0.0e0
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.681e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 6.144015728680265e-5
allele num: 16276
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62330
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InbreedingCoeff
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Other
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allele num: 850
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.12244243473799e-4
allele num: 62364
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Other
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African
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South Asian
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Latino
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

East Asian
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num of homozygotes: 0

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

South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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num of homozygotes: 0

African
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East Asian
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Other
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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allele frequency: 0.0e0
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.56977e6

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele frequency: 6.145526057030482e-5
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62448
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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FS
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QD
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MQ
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62452
num of homozygotes: 0

South Asian
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allele frequency: 6.143260842855388e-5
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Other
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VQSLOD
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.601383595426448e-5
allele num: 62446
num of homozygotes: 0

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

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

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

VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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FS
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QD
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MQRankSum
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.600922131147541e-5
allele num: 62464
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 6.724949562878278e-4
allele num: 8922
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62610
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.541586e6

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11364
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

Other
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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
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62666
num of homozygotes: 0

African
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allele frequency: 1.118318049653321e-4
allele num: 8942
num of homozygotes: 0

FS
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ClippingRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

DP
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.917e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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QD
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele frequency: 6.161429451632779e-5
allele num: 16230
num of homozygotes: 0

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

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

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

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

MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
type: SiteQuality
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BaseQRankSum
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DP
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

East Asian
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European (Finnish)
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allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

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

MQRankSum
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DP
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ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.813e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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num of homozygotes: 0

East Asian
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European (Finnish)
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South Asian
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Other
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Latino
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allele frequency: 4.520795660036166e-4
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European (Non-Finnish)
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
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Other
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African
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allele frequency: 2.067397146991937e-4
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Latino
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East Asian
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South Asian
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FS
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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num of homozygotes: 0

South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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allele num: 8426
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African
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BaseQRankSum
type: SiteQuality
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FS
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MQ
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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variant carriers: 0

African
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num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 1.584484725567246e-5
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South Asian
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allele frequency: 0.0e0
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FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.809299800977022e-4
allele num: 11054
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.249218847644044e-5
allele num: 16002
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.174804749507905e-5
allele num: 62996
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8426
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.149e1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.611863313990974e-4
allele num: 6204
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9706
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11052
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63102
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.420381e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 5.621486570893192e-4
allele num: 16010
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63086
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11068
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.864e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.420154e6

QD
type: SiteQuality
SIO_000300: 1.123e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63116
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6202
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9724
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
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Other
type: Population
allele count: 0
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allele num: 836
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South Asian
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allele frequency: 6.250781347668459e-5
allele num: 15998
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.845e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

FS
type: SiteQuality
SIO_000300: 6.643e0

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

DP
type: SiteQuality
SIO_000300: 1.423927e6

QD
type: SiteQuality
SIO_000300: 2.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16012
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9716
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.584484725567246e-5
allele num: 63112
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.425329e6

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.356729377713459e-3
allele num: 11056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585590156656307e-5
allele num: 63068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 4
allele frequency: 2.501250625312656e-4
allele num: 15992
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MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.157e1

DP
type: SiteQuality
SIO_000300: 1.427226e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
all individuals: 1691
bin: 9.75e1
variant carriers: 29

African
type: Population
allele count: 24
allele frequency: 2.473716759431045e-3
allele num: 9702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15990
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European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.925437484149124e-5
allele num: 63088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.03179190751445e-5
allele num: 11072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.429096e6

QD
type: SiteQuality
SIO_000300: 1.301e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.248437890527369e-5
allele num: 16004
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6080
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
allele num: 8434
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63230
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.442877e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15996
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.581777918380259e-5
allele num: 63220
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6060
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African
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allele count: 0
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allele num: 9714
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.443594e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.157562361856647e-5
allele num: 63340
num of homozygotes: 0

European (Finnish)
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allele count: 15
allele frequency: 2.474430880897394e-3
allele num: 6062
num of homozygotes: 0

Other
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allele count: 0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 3.266e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.446829e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.578233010321644e-5
allele num: 63362
num of homozygotes: 0

South Asian
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allele num: 15994
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Other
type: Population
allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9710
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6054
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4317

GenotypeQuality
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variant carriers: 23

South Asian
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allele count: 353
allele frequency: 2.207077654120295e-2
allele num: 15994
num of homozygotes: 11

Latino
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allele count: 647
allele frequency: 5.831981251126735e-2
allele num: 11094
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East Asian
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allele count: 5
allele frequency: 5.912961210974456e-4
allele num: 8456
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African
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allele count: 96
allele frequency: 9.886714727085478e-3
allele num: 9710
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European (Finnish)
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allele count: 430
allele frequency: 7.138114209827358e-2
allele num: 6024
num of homozygotes: 11

Other
type: Population
allele count: 36
allele frequency: 4.265402843601896e-2
allele num: 844
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European (Non-Finnish)
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allele count: 3047
allele frequency: 4.806600201918223e-2
allele num: 63392
num of homozygotes: 86

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.479694e6

QD
type: SiteQuality
SIO_000300: 1.301e1

GenotypeQuality
all individuals: 4710
bin: 2.25e1
variant carriers: 0

African
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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
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577535888941474e-5
allele num: 63390
num of homozygotes: 0

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

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

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

BaseQRankSum
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MQ
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele frequency: 1.182033096926714e-4
allele num: 8460
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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Other
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MQ
type: SiteQuality
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FS
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DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.182033096926714e-4
allele num: 8460
num of homozygotes: 0

Other
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Latino
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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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African
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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DP
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 1.032631144155308e-4
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Latino
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Other
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.760393525864805e-5
allele num: 63020
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Other
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Latino
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African
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East Asian
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DP
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 9.496976795720029e-5
allele num: 63178
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 5908
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South Asian
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African
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Latino
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Other
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MQ
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VQSLOD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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East Asian
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allele num: 8450
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 1.581577781995318e-5
allele num: 63228
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.584233706156332e-5
allele num: 63122
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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African
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allele num: 9624
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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MQRankSum
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QD
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

GenotypeQuality
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variant carriers: 1

South Asian
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African
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allele count: 0
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Other
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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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Latino
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.584886522125016e-5
allele num: 63096
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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FS
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9570
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.960515841426525e-5
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

Latino
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Other
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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allele num: 62680
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South Asian
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MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

Other
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East Asian
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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num of homozygotes: 0

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

African
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allele num: 9562
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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QD
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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East Asian
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European (Finnish)
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African
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62568
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 1.050640890943476e-4
allele num: 9518
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
type: SiteQuality
SIO_000300: -9.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 10916
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.201946783644456e-5
allele num: 62462
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5746
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Other
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allele frequency: 0.0e0
allele num: 820
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ClippingRankSum
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QD
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BaseQRankSum
type: SiteQuality
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FS
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10908
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Other
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East Asian
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South Asian
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African
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allele frequency: 0.0e0
allele num: 9466
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.604775812818949e-5
allele num: 62314
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5720
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ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

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

GenotypeQuality
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variant carriers: 0

African
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allele frequency: 1.901944209636517e-3
allele num: 9464
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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allele frequency: 0.0e0
allele num: 820
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8352
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5734
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Latino
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MQ
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 820
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.605806596653499e-5
allele num: 62274
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9422
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10852
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61946
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5682
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Other
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allele num: 822
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South Asian
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allele count: 2
allele frequency: 1.261670451678022e-4
allele num: 15852
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8328
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

QD
type: SiteQuality
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FS
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele num: 9374
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South Asian
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 10806
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.24833522819555e-5
allele num: 61570
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European (Finnish)
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allele frequency: 0.0e0
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.276656e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.33e-1

MQ
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5612
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Latino
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allele frequency: 9.285051067780872e-5
allele num: 10770
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Other
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African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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DP
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.630576571875815e-5
allele num: 61328
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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DP
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QD
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

African
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European (Non-Finnish)
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allele frequency: 4.890772742093251e-5
allele num: 61340
num of homozygotes: 0

Latino
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East Asian
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South Asian
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Other
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European (Finnish)
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

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