17-644774-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644774
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644774
    reference: chr 17
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.738G>T
  hgvsp: ENST00000308278.8:c.738G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*272G>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*616G>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.642G>T
  hgvsp: ENST00000301324.8:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg246Arg
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-644785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644785
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644785
    reference: chr 17
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*283C>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*627C>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.749C>T
  hgvsp: ENSP00000312017.7:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.653C>T
  hgvsp: ENSP00000301324.8:p.Thr218Ile
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr250Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-644787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644787
    reference: chr 17
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*285C>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.655C>T
  hgvsp: ENSP00000301324.8:p.Pro219Ser
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*629C>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.751C>T
  hgvsp: ENSP00000312017.7:p.Pro251Ser
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4280
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro251Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-644791-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644791
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644791
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*633A>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.659A>C
  hgvsp: ENSP00000301324.8:p.Gln220Pro
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*289A>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.755A>C
  hgvsp: ENSP00000312017.7:p.Gln252Pro
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9992
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln252Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-644796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644796
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644796
    reference: chr 17
allele count: 2
allele frequency: 1.649348507339601e-5
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.760A>G
  hgvsp: ENSP00000312017.7:p.Lys254Glu
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*294A>G
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*638A>G
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.664A>G
  hgvsp: ENSP00000301324.8:p.Lys222Glu
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33467
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys254Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-644802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644802
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644802
    reference: chr 17
allele count: 7
allele frequency: 5.776816808886395e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*300G>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*644G>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.670G>A
  hgvsp: ENSP00000301324.8:p.Asp224Asn
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.766G>A
  hgvsp: ENSP00000312017.7:p.Asp256Asn
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp256Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-644808-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644808
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644808
    reference: chr 17
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.676T>A
  hgvsp: ENSP00000301324.8:p.Ter226LysextTer34
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*650T>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*306T>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.772T>A
  hgvsp: ENSP00000312017.7:p.Ter258LysextTer34
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ter258LysextTer34
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-644812-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644812
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644812
    reference: chr 17
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.*2T>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*310T>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*654T>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.*2T>A
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-644817-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644817
    reference: chr 17
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.*7C>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*659C>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.*7C>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*315C>A
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

17-644818-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644818
    reference: chr 17
allele count: 1
allele frequency: 8.299306178003518e-6
allele num: 120492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*316T>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*660T>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.*8T>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.*8T>C
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

17-644829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644829
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644829
    reference: chr 17
allele count: 4
allele frequency: 3.341240936883959e-5
allele num: 119716
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.*19C>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.*19C>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*327C>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*671C>T
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13207
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
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genotype quality: GenotypeQuality
  all individuals: 27393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

17-644830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644830
    reference: chr 17
allele count: 3
allele frequency: 2.505972567953623e-5
allele num: 119714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*328G>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.*20G>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.*20G>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*672G>A
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2500
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genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-644834-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644834
    reference: chr 17
allele count: 1
allele frequency: 8.367640660039494e-6
allele num: 119508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*676C>G
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.*24C>G
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.*24C>G
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*332C>G
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-644834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644834
    reference: chr 17
allele count: 2
allele frequency: 1.673528132007899e-5
allele num: 119508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.*24C>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*676C>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*332C>T
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.*24C>T
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22068
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/17-644841-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644841
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644841
    reference: chr 17
allele count: 1555
allele frequency: 1.308195783487288e-2
allele num: 118866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*683C>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.*31C>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*339C>A
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.*31C>A
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 3.75e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 1.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 2.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 3.25e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 1.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 4.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19230
  bin: 2.75e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20122
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 9.75e1
  variant carriers: 1510
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.75e1
  variant carriers: 3
num of homozygotes: 30
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-644846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644846
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644846
    reference: chr 17
allele count: 1
allele frequency: 8.421478137842754e-6
allele num: 118744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.*36T>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*688T>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*344T>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.*36T>C
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-644856-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 644856
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 644856
    reference: chr 17
allele count: 1
allele frequency: 8.495454931611589e-6
allele num: 117710
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000312017
  ensembl transcript: ENST00000308278
  gene symbol: FAM57A
  hgvsc: ENST00000308278.8:c.*46A>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000301324
  ensembl transcript: ENST00000301324
  gene symbol: FAM57A
  hgvsc: ENST00000301324.8:c.*46A>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000458649
  ensembl transcript: ENST00000570699
  gene symbol: FAM57A
  hgvsc: ENST00000570699.1:c.*698A>C
  variant of: http://identifiers.org/hgnc/29646
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167695
  ensembl protein: ENSP00000460233
  ensembl transcript: ENST00000577008
  gene symbol: FAM57A
  hgvsc: ENST00000577008.1:c.*354A>C
  variant of: http://identifiers.org/hgnc/29646
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4780
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

17-648056-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648056
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648056
    reference: chr 17
allele count: 4
allele frequency: 4.509074512456318e-5
allele num: 88710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.*50C>G
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.*50C>G
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10362
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8722
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 239
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genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8938
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-648060-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648057
    reference: chr 17
allele count: 4
allele frequency: 4.49195939268709e-5
allele num: 89048
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.*43_*45delAGA
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.*43_*45delAGA
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20653
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13286
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3454
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 669
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genotype quality: GenotypeQuality
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  variant carriers: 5
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7495
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6898
  num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: ATCT
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-648074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648074
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648074
    reference: chr 17
allele count: 4
allele frequency: 4.378762999452654e-5
allele num: 91350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.*32G>A
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.*32G>A
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18006
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17093
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 367
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genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 291
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genotype quality: GenotypeQuality
  all individuals: 498
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4873
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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: 988
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5496
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-648074-CGCCATGTTGGGGCCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648074
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648058
    reference: chr 17
allele count: 2
allele frequency: 2.189381499726327e-5
allele num: 91350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18006
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 1.25e1
  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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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7261
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 636
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: CGCCATGTTGGGGCCCA
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

17-648080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648080
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648080
    reference: chr 17
allele count: 1
allele frequency: 1.065870816457045e-5
allele num: 93820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.*26C>T
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.*26C>T
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12318
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1137
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 672
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

17-648084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648084
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648084
    reference: chr 17
allele count: 2
allele frequency: 2.107881368436584e-5
allele num: 94882
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.*22C>T
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.*22C>T
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7380
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-648099-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648099
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648099
    reference: chr 17
allele count: 4
allele frequency: 3.954679374369723e-5
allele num: 101146
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.*7G>T
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.*7G>T
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30453
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.733282490380282e-5
  allele num: 57694
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-648099-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648099
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648099
    reference: chr 17
allele count: 6
allele frequency: 5.932019061554584e-5
allele num: 101146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.*7G>A
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7800
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-648100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648100
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648100
    reference: chr 17
allele count: 11
allele frequency: 1.083039599866097e-4
allele num: 101566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.*6C>T
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30554
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5846
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-648101-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648101
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648101
    reference: chr 17
allele count: 1
allele frequency: 9.761621210050565e-6
allele num: 102442
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.*5G>C
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.*5G>C
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 981
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genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11610
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-648107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648107
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648107
    reference: chr 17
allele count: 1
allele frequency: 9.521995810321844e-6
allele num: 105020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3176G>T
  hgvsp: ENSP00000321706.5:p.Ter1059LeuextTer75
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3143G>T
  hgvsp: ENSP00000459565.1:p.Ter1048LeuextTer75
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 726
  bin: 5.75e1
  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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genotype quality: GenotypeQuality
  all individuals: 1187
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
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genotype quality: GenotypeQuality
  all individuals: 29940
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 8197
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1959
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 467
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ter1059LeuextTer75
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10290
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-648108-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648108
    reference: chr 17
allele count: 1
allele frequency: 9.475080538184574e-6
allele num: 105540
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3175T>C
  hgvsp: ENSP00000321706.5:p.Ter1059ArgextTer75
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3142T>C
  hgvsp: ENSP00000459565.1:p.Ter1048ArgextTer75
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 30440
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ter1059ArgextTer75
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10308
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-648109-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648109
    reference: chr 17
allele count: 1
allele frequency: 9.444297533149485e-6
allele num: 105884
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3174C>G
  hgvsp: ENSP00000321706.5:p.Phe1058Leu
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3141C>G
  hgvsp: ENSP00000459565.1:p.Phe1047Leu
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5682
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe1058Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 762
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

17-648112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648112
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648112
    reference: chr 17
allele count: 1
allele frequency: 9.347541596560104e-6
allele num: 106980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3138C>T
  hgvsp: ENST00000576778.1:c.3138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3171C>T
  hgvsp: ENST00000319004.5:c.3171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1057Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10430
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-648115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648115
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648115
    reference: chr 17
allele count: 1
allele frequency: 9.23599822668834e-6
allele num: 108272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3135C>T
  hgvsp: ENST00000576778.1:c.3135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3168C>T
  hgvsp: ENST00000319004.5:c.3168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
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genotype quality: GenotypeQuality
  all individuals: 479
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1056Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6142
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-648119-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648119
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648116
    reference: chr 17
allele count: 1
allele frequency: 9.100671629566262e-6
allele num: 109882
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3161_3163delAGA
  hgvsp: ENSP00000321706.5:p.Lys1054del
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3128_3130delAGA
  hgvsp: ENSP00000459565.1:p.Lys1043del
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35223
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6236
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 600
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genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys1054del
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14050
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: ATCT
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-648120-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648120
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648120
    reference: chr 17
allele count: 2
allele frequency: 1.816134539246667e-5
allele num: 110124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3130A>G
  hgvsp: ENSP00000459565.1:p.Met1044Val
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3163A>G
  hgvsp: ENSP00000321706.5:p.Met1055Val
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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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: 503
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1055Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 806
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-648127-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648127
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648127
    reference: chr 17
allele count: 1
allele frequency: 8.955918966845188e-6
allele num: 111658
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3156G>T
  hgvsp: ENSP00000321706.5:p.Leu1052Phe
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3123G>T
  hgvsp: ENSP00000459565.1:p.Leu1041Phe
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 764
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genotype depth: GenotypeDepth
  all individuals: 70
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genotype depth: GenotypeDepth
  all individuals: 27
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 34170
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1052Phe
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 9.30925339787749e-5
  allele num: 10742
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-648133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648133
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648133
    reference: chr 17
allele count: 2
allele frequency: 1.771573334278173e-5
allele num: 112894
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3150C>T
  hgvsp: ENST00000319004.5:c.3150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3117C>T
  hgvsp: ENST00000576778.1:c.3117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 70
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1040
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2433
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  variant carriers: 0
hgvs: p.Thr1050Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10822
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

17-648134-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648134
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648134
    reference: chr 17
allele count: 8
allele frequency: 7.081776817803587e-5
allele num: 112966
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3149C>A
  hgvsp: ENSP00000321706.5:p.Thr1050Asn
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3116C>A
  hgvsp: ENSP00000459565.1:p.Thr1039Asn
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
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genotype depth: GenotypeDepth
  all individuals: 35445
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genotype depth: GenotypeDepth
  all individuals: 11194
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 351
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1050Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 8
  allele frequency: 7.389617587289858e-4
  allele num: 10826
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

17-648136-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648136
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648136
    reference: chr 17
allele count: 9
allele frequency: 7.951091949961127e-5
allele num: 113192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3114A>T
  hgvsp: ENSP00000459565.1:p.Gln1038His
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3147A>T
  hgvsp: ENSP00000321706.5:p.Gln1049His
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln1049His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6336
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-648140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648140
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648140
    reference: chr 17
allele count: 3
allele frequency: 2.639311667517111e-5
allele num: 113666
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3143G>A
  hgvsp: ENSP00000321706.5:p.Arg1048His
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3110G>A
  hgvsp: ENSP00000459565.1:p.Arg1037His
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1649
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  variant carriers: 0
hgvs: p.Arg1048His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10876
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-648143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648143
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648143
    reference: chr 17
allele count: 2
allele frequency: 1.747823959170832e-5
allele num: 114428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3107G>A
  hgvsp: ENSP00000459565.1:p.Arg1036Gln
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3140G>A
  hgvsp: ENSP00000321706.5:p.Arg1047Gln
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 625
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hgvs: p.Arg1047Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6402
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-648144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648144
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648144
    reference: chr 17
allele count: 6
allele frequency: 5.235784844148138e-5
allele num: 114596
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3139C>T
  hgvsp: ENSP00000321706.5:p.Arg1047Trp
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3106C>T
  hgvsp: ENSP00000459565.1:p.Arg1036Trp
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3035
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hgvs: p.Arg1047Trp
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.187648456057007e-4
  allele num: 8420
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-648146-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648146
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648146
    reference: chr 17
allele count: 1
allele frequency: 8.700191404210892e-6
allele num: 114940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3104A>G
  hgvsp: ENSP00000459565.1:p.Glu1035Gly
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3137A>G
  hgvsp: ENSP00000321706.5:p.Glu1046Gly
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 652
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1046Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8858
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-648150-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648150
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648150
    reference: chr 17
allele count: 1
allele frequency: 8.67362869930264e-6
allele num: 115292
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3133G>A
  hgvsp: ENSP00000321706.5:p.Glu1045Lys
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3100G>A
  hgvsp: ENSP00000459565.1:p.Glu1034Lys
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12660
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 200
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 361
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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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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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 773
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genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu1045Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6434
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-648152-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648152
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648152
    reference: chr 17
allele count: 1
allele frequency: 8.657708823936834e-6
allele num: 115504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3098C>G
  hgvsp: ENSP00000459565.1:p.Pro1033Arg
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3131C>G
  hgvsp: ENSP00000321706.5:p.Pro1044Arg
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35427
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1167
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genotype quality: GenotypeQuality
  all individuals: 666
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro1044Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11012
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-648156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648156
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648156
    reference: chr 17
allele count: 92
allele frequency: 7.936097165433121e-4
allele num: 115926
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3127G>A
  hgvsp: ENSP00000321706.5:p.Gly1043Ser
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3094G>A
  hgvsp: ENSP00000459565.1:p.Gly1032Ser
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2297
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 16
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 77
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gly1043Ser
num of homozygotes: 1
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.264222503160556e-4
  allele num: 15820
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

17-648157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648157
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648157
    reference: chr 17
allele count: 24825
allele frequency: 2.117740394458473e-1
allele num: 117224
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3126C>T
  hgvsp: ENST00000319004.5:c.3126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3093C>T
  hgvsp: ENST00000576778.1:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.75e1
  variant carriers: 1079
genotype depth: GenotypeDepth
  all individuals: 549
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  variant carriers: 522
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1924
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 195
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 21740
  bin: 6.25e1
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 21244
  bin: 9.75e1
  variant carriers: 20450
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 5.25e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.75e1
  variant carriers: 201
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.25e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.75e1
  variant carriers: 83
hgvs: p.Ile1042Ile
num of homozygotes: 2878
population: European (Finnish)
  type: Population
  allele count: 1248
  allele frequency: 1.915285451197054e-1
  allele num: 6516
  num of homozygotes: 121
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-648159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648159
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648159
    reference: chr 17
allele count: 1
allele frequency: 8.498342823149486e-6
allele num: 117670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3091A>G
  hgvsp: ENSP00000459565.1:p.Ile1031Val
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3124A>G
  hgvsp: ENSP00000321706.5:p.Ile1042Val
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25261
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7174
  bin: 9.75e1
  variant carriers: 1
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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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile1042Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65324
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

17-648163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648163
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648163
    reference: chr 17
allele count: 3
allele frequency: 2.545781639822813e-5
allele num: 117842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3087G>A
  hgvsp: ENST00000576778.1:c.3087G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3120G>A
  hgvsp: ENST00000319004.5:c.3120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25278
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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: 7186
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Glu1040Glu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8552
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-648170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648170
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648170
    reference: chr 17
allele count: 2
allele frequency: 1.692792091275349e-5
allele num: 118148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3080T>C
  hgvsp: ENSP00000459565.1:p.Ile1027Thr
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3113T>C
  hgvsp: ENSP00000321706.5:p.Ile1038Thr
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 190
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genotype depth: GenotypeDepth
  all individuals: 380
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 810
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile1038Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11246
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

17-648171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648171
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648171
    reference: chr 17
allele count: 2
allele frequency: 1.691961490956466e-5
allele num: 118206
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3112A>G
  hgvsp: ENSP00000321706.5:p.Ile1038Val
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3079A>G
  hgvsp: ENSP00000459565.1:p.Ile1027Val
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14620
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile1038Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8558
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-648177-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648177
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648177
    reference: chr 17
allele count: 1
allele frequency: 8.446088616361763e-6
allele num: 118398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3073A>C
  hgvsp: ENSP00000459565.1:p.Lys1025Gln
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3106A>C
  hgvsp: ENSP00000321706.5:p.Lys1036Gln
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7210
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys1036Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9254
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-648178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648178
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648178
    reference: chr 17
allele count: 2
allele frequency: 1.689132123914732e-5
allele num: 118404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3072A>G
  hgvsp: ENST00000576778.1:c.3072A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3105A>G
  hgvsp: ENST00000319004.5:c.3105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14809
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7210
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1035Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.521606816798539e-4
  allele num: 6572
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

17-648185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648185
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648185
    reference: chr 17
allele count: 4
allele frequency: 3.373534620899047e-5
allele num: 118570
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3098G>A
  hgvsp: ENSP00000321706.5:p.Arg1033His
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3065G>A
  hgvsp: ENSP00000459565.1:p.Arg1022His
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7218
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27838
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 7321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1033His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8572
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-648186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648186
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648186
    reference: chr 17
allele count: 74807
allele frequency: 6.244740884199279e-1
allele num: 119792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3064C>T
  hgvsp: ENSP00000459565.1:p.Arg1022Cys
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3097C>T
  hgvsp: ENSP00000321706.5:p.Arg1033Cys
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.75e1
  variant carriers: 840
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 8.75e1
  variant carriers: 698
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 608
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 4.25e1
  variant carriers: 6293
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 3.75e1
  variant carriers: 7436
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.25e1
  variant carriers: 768
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 2.75e1
  variant carriers: 5550
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 9.75e1
  variant carriers: 2099
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.75e1
  variant carriers: 4690
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 3.25e1
  variant carriers: 7227
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.75e1
  variant carriers: 1686
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 5.75e1
  variant carriers: 2172
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 2.25e1
  variant carriers: 3329
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 5.25e1
  variant carriers: 3283
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 6.25e1
  variant carriers: 1615
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 613
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 1201
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 1041
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 960
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.75e1
  variant carriers: 639
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.25e1
  variant carriers: 1133
genotype quality: GenotypeQuality
  all individuals: 6429
  bin: 6.25e1
  variant carriers: 618
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.75e1
  variant carriers: 326
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 6.75e1
  variant carriers: 727
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.25e1
  variant carriers: 512
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.25e1
  variant carriers: 456
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 9.25e1
  variant carriers: 1213
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 341
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 194
genotype quality: GenotypeQuality
  all individuals: 43689
  bin: 9.75e1
  variant carriers: 43517
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 137
hgvs: p.Arg1033Cys
num of homozygotes: 23796
population: European (Non-Finnish)
  type: Population
  allele count: 37386
  allele frequency: 5.649821676842169e-1
  allele num: 66172
  num of homozygotes: 10605
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-648187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648187
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648187
    reference: chr 17
allele count: 60
allele frequency: 5.005923676350348e-4
allele num: 119858
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3096G>A
  hgvsp: ENST00000319004.5:c.3096G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3063G>A
  hgvsp: ENST00000576778.1:c.3063G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15703
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29071
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 60
hgvs: p.Gln1032Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-648189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648189
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648189
    reference: chr 17
allele count: 18
allele frequency: 1.501802162595114e-4
allele num: 119856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3061C>T
  hgvsp: ENSP00000459565.1:p.Gln1021Ter
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3094C>T
  hgvsp: ENSP00000321706.5:p.Gln1032Ter
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29066
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln1032Ter
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-648192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648192
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648192
    reference: chr 17
allele count: 2
allele frequency: 1.668780455243308e-5
allele num: 119848
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3091G>A
  hgvsp: ENSP00000321706.5:p.Glu1031Lys
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3058G>A
  hgvsp: ENSP00000459565.1:p.Glu1020Lys
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1031Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6598
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-648193-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648193
    reference: chr 17
allele count: 100
allele frequency: 8.344180768332165e-4
allele num: 119844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3057C>T
  hgvsp: ENST00000576778.1:c.3057C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3090C>T
  hgvsp: ENST00000319004.5:c.3090C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29072
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16213
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39196
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 678
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 9.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His1030His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8604
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-648215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648215
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648215
    reference: chr 17
allele count: 39
allele frequency: 3.25542570951586e-4
allele num: 119800
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3068G>A
  hgvsp: ENSP00000321706.5:p.Ser1023Asn
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3035G>A
  hgvsp: ENSP00000459565.1:p.Ser1012Asn
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29352
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 8517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1023Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6604
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

17-648216-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648216
    reference: chr 17
allele count: 64
allele frequency: 5.342237061769616e-4
allele num: 119800
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3067A>C
  hgvsp: ENSP00000321706.5:p.Ser1023Arg
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3034A>C
  hgvsp: ENSP00000459565.1:p.Ser1012Arg
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29360
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17251
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 9.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser1023Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 890
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-648217-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648217
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648217
    reference: chr 17
allele count: 4
allele frequency: 3.338452293516726e-5
allele num: 119816
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3066C>G
  hgvsp: ENST00000319004.5:c.3066C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3033C>G
  hgvsp: ENST00000576778.1:c.3033C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 357
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genotype quality: GenotypeQuality
  all individuals: 41035
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val1022Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16422
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

17-648217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648217
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648217
    reference: chr 17
allele count: 1
allele frequency: 8.346130733791815e-6
allele num: 119816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3033C>T
  hgvsp: ENST00000576778.1:c.3033C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3066C>T
  hgvsp: ENST00000319004.5:c.3066C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 41035
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8526
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1022Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11472
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-648219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648219
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648219
    reference: chr 17
allele count: 1
allele frequency: 8.347106058329577e-6
allele num: 119802
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3064G>A
  hgvsp: ENSP00000321706.5:p.Val1022Ile
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3031G>A
  hgvsp: ENSP00000459565.1:p.Val1011Ile
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 41155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val1022Ile
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 890
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

17-648227-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648227
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648227
    reference: chr 17
allele count: 3
allele frequency: 2.504800868330968e-5
allele num: 119770
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3056A>G
  hgvsp: ENSP00000321706.5:p.Asn1019Ser
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3023A>G
  hgvsp: ENSP00000459565.1:p.Asn1008Ser
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 8345
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1423
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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: 21
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genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8495
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 274
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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: 298
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn1019Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 3
  allele frequency: 3.487561032318065e-4
  allele num: 8602
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-648241-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648241
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648241
    reference: chr 17
allele count: 1
allele frequency: 8.353381448810478e-6
allele num: 119712
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3042T>G
  hgvsp: ENST00000319004.5:c.3042T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.3009T>G
  hgvsp: ENST00000576778.1:c.3009T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
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genotype quality: GenotypeQuality
  all individuals: 1420
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8466
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 231
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genotype quality: GenotypeQuality
  all individuals: 837
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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: 191
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genotype quality: GenotypeQuality
  all individuals: 98
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  variant carriers: 0
hgvs: p.Thr1014Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8600
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-648251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648251
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648251
    reference: chr 17
allele count: 3
allele frequency: 2.509452270217821e-5
allele num: 119548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2999G>A
  hgvsp: ENSP00000459565.1:p.Cys1000Tyr
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3032G>A
  hgvsp: ENSP00000321706.5:p.Cys1011Tyr
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 29481
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2201
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  variant carriers: 0
hgvs: p.Cys1011Tyr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16372
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

17-648253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648253
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648253
    reference: chr 17
allele count: 2
allele frequency: 1.673164120668596e-5
allele num: 119534
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3030C>T
  hgvsp: ENST00000319004.5:c.3030C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2997C>T
  hgvsp: ENST00000576778.1:c.2997C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17759
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 101
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 25
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 124
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1416
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genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.75e1
  variant carriers: 0
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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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr1010Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.221896383186706e-4
  allele num: 16368
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

17-648255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648255
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648255
    reference: chr 17
allele count: 1
allele frequency: 8.369601606963508e-6
allele num: 119480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2995A>G
  hgvsp: ENSP00000459565.1:p.Thr999Ala
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3028A>G
  hgvsp: ENSP00000321706.5:p.Thr1010Ala
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29475
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1010Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.514142087093453e-5
  allele num: 66044
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-648259-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648259
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648259
    reference: chr 17
allele count: 1
allele frequency: 8.379279717115517e-6
allele num: 119342
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3024C>G
  hgvsp: ENST00000319004.5:c.3024C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2991C>G
  hgvsp: ENST00000576778.1:c.2991C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 25
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr1008Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9526
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-648260-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648260
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648260
    reference: chr 17
allele count: 9
allele frequency: 7.541604518259063e-5
allele num: 119338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3023C>A
  hgvsp: ENSP00000321706.5:p.Thr1008Asn
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2990C>A
  hgvsp: ENSP00000459565.1:p.Thr997Asn
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29437
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 602
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 344
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genotype quality: GenotypeQuality
  all individuals: 110
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr1008Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 9
  allele frequency: 7.872638208537439e-4
  allele num: 11432
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

17-648266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648266
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648266
    reference: chr 17
allele count: 1
allele frequency: 8.390106386548982e-6
allele num: 119188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3017T>C
  hgvsp: ENSP00000321706.5:p.Leu1006Ser
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2984T>C
  hgvsp: ENSP00000459565.1:p.Leu995Ser
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1006Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9500
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-648268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648268
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648268
    reference: chr 17
allele count: 1
allele frequency: 8.394754957102802e-6
allele num: 119122
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3015C>T
  hgvsp: ENST00000319004.5:c.3015C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2982C>T
  hgvsp: ENST00000576778.1:c.2982C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1005Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6592
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-648276-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648276
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648276
    reference: chr 17
allele count: 3
allele frequency: 2.526613663926695e-5
allele num: 118736
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3007G>A
  hgvsp: ENSP00000321706.5:p.Val1003Ile
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2974G>A
  hgvsp: ENSP00000459565.1:p.Val992Ile
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17357
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1003Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.05977108944468e-4
  allele num: 9436
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-648277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648277
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648277
    reference: chr 17
allele count: 8
allele frequency: 6.738090425173506e-5
allele num: 118728
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3006C>T
  hgvsp: ENST00000319004.5:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2973C>T
  hgvsp: ENST00000576778.1:c.2973C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1400
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  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8081
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr1002Tyr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6570
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-648279-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648279
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648279
    reference: chr 17
allele count: 151
allele frequency: 1.273659705118256e-3
allele num: 118556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2971T>C
  hgvsp: ENSP00000459565.1:p.Tyr991His
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.3004T>C
  hgvsp: ENSP00000321706.5:p.Tyr1002His
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17296
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 1078
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 166
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  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
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  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 396
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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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  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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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 147
hgvs: p.Tyr1002His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6560
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-648285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648285
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648285
    reference: chr 17
allele count: 1
allele frequency: 8.463673911571535e-6
allele num: 118152
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.2998C>T
  hgvsp: ENSP00000321706.5:p.Pro1000Ser
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2965C>T
  hgvsp: ENSP00000459565.1:p.Pro989Ser
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17194
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1000Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11286
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-648295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 648295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 648295
    reference: chr 17
allele count: 1
allele frequency: 8.542481761801439e-6
allele num: 117062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000459565
  ensembl transcript: ENST00000576778
  gene symbol: GEMIN4
  hgvsc: ENST00000576778.1:c.2955G>A
  hgvsp: ENST00000576778.1:c.2955G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179409
  ensembl protein: ENSP00000321706
  ensembl transcript: ENST00000319004
  gene symbol: GEMIN4
  hgvsc: ENST00000319004.5:c.2988G>A
  hgvsp: ENST00000319004.5:c.2988G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15717
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu996Glu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.807486e6

VQSLOD
type: SiteQuality
SIO_000300: -2.076e0

QD
type: SiteQuality
SIO_000300: 1.045e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

GenotypeQuality
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4283
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.80645e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.428e0

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.155e0

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

GenotypeQuality
all individuals: 10001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4048
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 4.914e0

QD
type: SiteQuality
SIO_000300: 1.354e1

DP
type: SiteQuality
SIO_000300: 1.806482e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

GenotypeQuality
all individuals: 1481
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4278
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.775e1

VQSLOD
type: SiteQuality
SIO_000300: -1.199e0

FS
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.805813e6

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e0

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 1.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 1.805225e6

GenotypeQuality
all individuals: 4276
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 6.733358984224702e-4
allele num: 10396
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.916e0

QD
type: SiteQuality
SIO_000300: 1.156e1

FS
type: SiteQuality
SIO_000300: 1.448e0

DP
type: SiteQuality
SIO_000300: 1.802616e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
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: 8650
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

FS
type: SiteQuality
SIO_000300: 3.865e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 1.795789e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

QD
type: SiteQuality
SIO_000300: 1.954e1

VQSLOD
type: SiteQuality
SIO_000300: -1.185e0

GenotypeQuality
all individuals: 701
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4269
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
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: 66468
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.707e0

QD
type: SiteQuality
SIO_000300: 1.097e1

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 1.791719e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4263
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1082
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.082e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 1.781904e6

FS
type: SiteQuality
SIO_000300: 8.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.126e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.238e0

GenotypeQuality
all individuals: 3975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4263
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

FS
type: SiteQuality
SIO_000300: 1.2363e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.527e0

QD
type: SiteQuality
SIO_000300: 1.448e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.77788e6

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.644e-1

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8893
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15758
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
SIO_000300: 2.007e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

DP
type: SiteQuality
SIO_000300: 1.71881e6

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 1.313e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
all individuals: 1539
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8842
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514646632940535e-5
allele num: 66022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.716982e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 1.609e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 1.242e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e0

GenotypeQuality
all individuals: 8586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.376737661012626e-5
allele num: 15682
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.104e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.690317e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.424e1

GenotypeQuality
all individuals: 2467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.376737661012626e-5
allele num: 15682
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-5
allele num: 65920
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.424e1

FS
type: SiteQuality
SIO_000300: 2.104e0

DP
type: SiteQuality
SIO_000300: 1.690317e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

GenotypeQuality
all individuals: 1944
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 183
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 5.25e1
variant carriers: 1

Other
type: Population
allele count: 10
allele frequency: 1.136363636363636e-2
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 691
allele frequency: 1.05219880618833e-2
allele num: 65672
num of homozygotes: 10

Latino
type: Population
allele count: 39
allele frequency: 3.40195394277739e-3
allele num: 11464
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.264099572150914e-3
allele num: 10284
num of homozygotes: 0

South Asian
type: Population
allele count: 184
allele frequency: 1.195892369686728e-2
allele num: 15386
num of homozygotes: 2

East Asian
type: Population
allele count: 607
allele frequency: 7.058139534883721e-2
allele num: 8600
num of homozygotes: 18

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.671732522796353e-3
allele num: 6580
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

FS
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.623244e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
all individuals: 3460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65628
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -8.57e-1

FS
type: SiteQuality
SIO_000300: 7.921e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.357e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.582338e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

GenotypeQuality
all individuals: 4010
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2714
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.526251526251526e-4
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.52141e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

QD
type: SiteQuality
SIO_000300: 1.492e1

MQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7020
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.763975155279503e-5
allele num: 51520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.48446e5

FS
type: SiteQuality
SIO_000300: 1.3324e1

VQSLOD
type: SiteQuality
SIO_000300: -9.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.466e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
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African
type: Population
allele count: 4
allele frequency: 5.660911406736484e-4
allele num: 7066
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51718
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

DP
type: SiteQuality
SIO_000300: 8.54112e5

QD
type: SiteQuality
SIO_000300: 1.566e1

MQRankSum
type: SiteQuality
SIO_000300: -1.186e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 5.303e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.566299701131161e-5
allele num: 52866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7254
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.71008e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 7.821e0

QD
type: SiteQuality
SIO_000300: 7.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.783149850565581e-5
allele num: 52866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7078
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.71008e5

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 7.821e0

QD
type: SiteQuality
SIO_000300: 7.34e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.847677469420938e-5
allele num: 54122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9326
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

QD
type: SiteQuality
SIO_000300: 1.451e1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.035251e6

African
type: Population
allele count: 2
allele frequency: 2.665955745134631e-4
allele num: 7502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.356e1

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.673e0

DP
type: SiteQuality
SIO_000300: 1.064928e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.97e-1

Latino
type: Population
allele count: 3
allele frequency: 2.999400119976005e-4
allele num: 10002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 1.086e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.175471e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 5.370569280343716e-4
allele num: 11172
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.175471e6

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

QD
type: SiteQuality
SIO_000300: 1.086e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 9.674582233948989e-4
allele num: 11370
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

FS
type: SiteQuality
SIO_000300: 2.158e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.187872e6

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.128e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.717091933102098e-5
allele num: 58238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 8.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

FS
type: SiteQuality
SIO_000300: 2.614e0

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.195273e6

South Asian
type: Population
allele count: 1
allele frequency: 8.060615831049492e-5
allele num: 12406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.332e0

FS
type: SiteQuality
SIO_000300: 1.286e0

DP
type: SiteQuality
SIO_000300: 1.233973e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.512e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.339e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.925186241876684e-5
allele num: 12618
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.240536e6

QD
type: SiteQuality
SIO_000300: 1.339e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

FS
type: SiteQuality
SIO_000300: 1.286e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.856693903205531e-5
allele num: 12728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.478e1

FS
type: SiteQuality
SIO_000300: 8.750999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.394e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.053e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.39e-1

DP
type: SiteQuality
SIO_000300: 1.245919e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.660522732556209e-5
allele num: 60222
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.261632e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

QD
type: SiteQuality
SIO_000300: 9.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13550
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.194743130227001e-4
allele num: 8370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10502
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 1.280264e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.309e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626227801990503e-5
allele num: 61492
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.298e1

DP
type: SiteQuality
SIO_000300: 1.301366e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.66e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.246753246753247e-5
allele num: 61600
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.475e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.437e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 1.304997e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14672
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.663e0

QD
type: SiteQuality
SIO_000300: 1.209e1

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 4.847e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.329765e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8678
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.393489707994256e-4
allele num: 8356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15058
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.348167e6

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

QD
type: SiteQuality
SIO_000300: 7.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.809e0

QD
type: SiteQuality
SIO_000300: 1.18e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.349723e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.047827086686594e-4
allele num: 8698
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.845358922310389e-4
allele num: 10838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62950
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.768e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.353819e6

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.304801670146138e-4
allele num: 15328
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.192179303767287e-4
allele num: 8388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63134
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.341e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 1.367452e6

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.402e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10928
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.137138958380714e-4
allele num: 8794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574703955656337e-5
allele num: 63504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 4.302e0

DP
type: SiteQuality
SIO_000300: 1.380489e6

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.862376953800673e-5
allele num: 63594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.385476e6

VQSLOD
type: SiteQuality
SIO_000300: 8.080000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.594e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 9.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.120758847136082e-5
allele num: 10964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63778
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

DP
type: SiteQuality
SIO_000300: 1.389419e6

QD
type: SiteQuality
SIO_000300: 1.013e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563917300053173e-5
allele num: 63942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15712
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 8.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

FS
type: SiteQuality
SIO_000300: 1.752e0

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.514e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.397707e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560792882784454e-5
allele num: 64070
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: 8922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15748
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 4.447e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.763e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 1.402781e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64284
num of homozygotes: 0

African
type: Population
allele count: 88
allele frequency: 9.79301135099043e-3
allele num: 8986
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.812907904278463e-4
allele num: 11032
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

DP
type: SiteQuality
SIO_000300: 1.414661e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.35e0

QD
type: SiteQuality
SIO_000300: 1.417e1

East Asian
type: Population
allele count: 995
allele frequency: 1.172243166823751e-1
allele num: 8488
num of homozygotes: 57

Other
type: Population
allele count: 142
allele frequency: 1.647331786542924e-1
allele num: 862
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 17006
allele frequency: 2.613412835013523e-1
allele num: 65072
num of homozygotes: 2192

African
type: Population
allele count: 887
allele frequency: 9.764420959929547e-2
allele num: 9084
num of homozygotes: 51

South Asian
type: Population
allele count: 3328
allele frequency: 2.073778664007976e-1
allele num: 16048
num of homozygotes: 379

Latino
type: Population
allele count: 1219
allele frequency: 1.092881477496862e-1
allele num: 11154
num of homozygotes: 70

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.83e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

DP
type: SiteQuality
SIO_000300: 1.750433e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.637e1

Latino
type: Population
allele count: 1
allele frequency: 8.933357155619081e-5
allele num: 11194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.847e0

QD
type: SiteQuality
SIO_000300: 1.668e1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.646938e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.861273110807793e-4
allele num: 16118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65392
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.373e0

QD
type: SiteQuality
SIO_000300: 2.378e1

DP
type: SiteQuality
SIO_000300: 1.651763e6

FS
type: SiteQuality
SIO_000300: 3.748e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.837e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.052409877598364e-5
allele num: 65522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.496e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

DP
type: SiteQuality
SIO_000300: 1.657179e6

MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.051385328939338e-5
allele num: 65544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

DP
type: SiteQuality
SIO_000300: 1.658425e6

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 8.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.24e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.880994671403197e-5
allele num: 11260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

DP
type: SiteQuality
SIO_000300: 1.663253e6

FS
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.618e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.719e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523507724184162e-5
allele num: 65638
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.698e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

QD
type: SiteQuality
SIO_000300: 1.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 8.351000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.66382e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

South Asian
type: Population
allele count: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.566349051721514e-5
allele num: 65698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.105e0

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

QD
type: SiteQuality
SIO_000300: 2.406e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 9.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.232e0

DP
type: SiteQuality
SIO_000300: 1.671725e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.24e-1

African
type: Population
allele count: 8044
allele frequency: 8.284243048403708e-1
allele num: 9710
num of homozygotes: 3341

Latino
type: Population
allele count: 7982
allele frequency: 6.988268254246192e-1
allele num: 11422
num of homozygotes: 2748

South Asian
type: Population
allele count: 10699
allele frequency: 6.49368778829813e-1
allele num: 16476
num of homozygotes: 3503

Other
type: Population
allele count: 615
allele frequency: 6.879194630872483e-1
allele num: 894
num of homozygotes: 210

East Asian
type: Population
allele count: 5996
allele frequency: 7.014506317267197e-1
allele num: 8548
num of homozygotes: 2107

European (Finnish)
type: Population
allele count: 4085
allele frequency: 6.21765601217656e-1
allele num: 6570
num of homozygotes: 1282

QD
type: SiteQuality
SIO_000300: 2.381e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.523565e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.86e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

East Asian
type: Population
allele count: 60
allele frequency: 6.976744186046512e-3
allele num: 8600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

FS
type: SiteQuality
SIO_000300: 2.527e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.639e0

DP
type: SiteQuality
SIO_000300: 1.622445e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

QD
type: SiteQuality
SIO_000300: 2.575e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.516851198442633e-4
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.041748482010694e-5
allele num: 66206
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

FS
type: SiteQuality
SIO_000300: 4.357e0

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.621623e6

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.36e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.022e-1

QD
type: SiteQuality
SIO_000300: 3.269e1

DP
type: SiteQuality
SIO_000300: 1.620481e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.444e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

African
type: Population
allele count: 90
allele frequency: 9.324492333195192e-3
allele num: 9652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.553554702843159e-5
allele num: 66194
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.616431187859759e-4
allele num: 11466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.455e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.621016e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.892128720350506e-4
allele num: 66190
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

DP
type: SiteQuality
SIO_000300: 1.62118e6

QD
type: SiteQuality
SIO_000300: 1.286e1

East Asian
type: Population
allele count: 64
allele frequency: 7.445323406235459e-3
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 2.25e1

DP
type: SiteQuality
SIO_000300: 1.621114e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

East Asian
type: Population
allele count: 4
allele frequency: 4.650081376424087e-4
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 1.942e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

DP
type: SiteQuality
SIO_000300: 1.619595e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.038853106170787e-4
allele num: 9626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.619595e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 1.942e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.31e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.917e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.61943e6

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 2.057e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

QD
type: SiteQuality
SIO_000300: 1.514e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 1.114e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.619673e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511578692786746e-5
allele num: 66156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.619465e6

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.764e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.718e0

VQSLOD
type: SiteQuality
SIO_000300: -5.691000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.08e1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.54008898574412e-5
allele num: 66078
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 9.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.128e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 1.17e1

DP
type: SiteQuality
SIO_000300: 1.617925e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

FS
type: SiteQuality
SIO_000300: 1.892e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 6.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.327e0

DP
type: SiteQuality
SIO_000300: 1.617223e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.616607e6

FS
type: SiteQuality
SIO_000300: 1.437e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.933e1

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65970
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.82e-1

FS
type: SiteQuality
SIO_000300: 4.983e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.613915e6

QD
type: SiteQuality
SIO_000300: 1.078e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

QD
type: SiteQuality
SIO_000300: 1.083e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.748e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.61393e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65892
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.325e0

DP
type: SiteQuality
SIO_000300: 1.610114e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.258e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -2.749e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.221e0

QD
type: SiteQuality
SIO_000300: 1.294e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

DP
type: SiteQuality
SIO_000300: 1.608149e6

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.045808966861598e-5
allele num: 65664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.599378e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.11e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.23908435777872e-4
allele num: 9436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.091989034419738e-5
allele num: 65660
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.056e1

FS
type: SiteQuality
SIO_000300: 2.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.254e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.599295e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

Other
type: Population
allele count: 2
allele frequency: 2.257336343115124e-3
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.937907920268125e-4
allele num: 11338
num of homozygotes: 0

African
type: Population
allele count: 133
allele frequency: 1.412489379779099e-2
allele num: 9416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.067659081203099e-4
allele num: 65564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 1.595878e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.176652254478072e-5
allele num: 16190
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.584855e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.84e1

FS
type: SiteQuality
SIO_000300: 3.211e0

MQRankSum
type: SiteQuality
SIO_000300: -1.041e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1